{"id":"https://openalex.org/W2133845331","doi":"https://doi.org/10.1007/s10038-006-0384-7","title":"A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype\u2013phenotype correlation","display_name":"A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype\u2013phenotype correlation","publication_year":2006,"publication_date":"2006-04-04","ids":{"openalex":"https://openalex.org/W2133845331","doi":"https://doi.org/10.1007/s10038-006-0384-7","mag":"2133845331","pmid":"https://pubmed.ncbi.nlm.nih.gov/16596322"},"language":"en","primary_location":{"id":"doi:10.1007/s10038-006-0384-7","doi":"https://doi.org/10.1007/s10038-006-0384-7","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10038-006-0384-7","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5069301357","display_name":"Fumiaki Kamada","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I201537933","display_name":"Tohoku University","ror":"https://ror.org/01dq60k83","country_code":"JP","type":"education","lineage":["https://openalex.org/I201537933"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Fumiaki Kamada","raw_affiliation_strings":["21st COE Program \"Comprehensive Research and Education Center for Planning of Drug Development and Clinical Evaluation\", Tohoku University, Sendai, Japan","Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"21st COE Program \"Comprehensive Research and Education Center for Planning of Drug Development and Clinical Evaluation\", Tohoku University, Sendai, Japan","institution_ids":["https://openalex.org/I201537933"]},{"raw_affiliation_string":"Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan","institution_ids":["https://openalex.org/I201537933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073879473","display_name":"Shigeo Kure","orcid":"https://orcid.org/0000-0001-8524-4925","observed_orcids":["https://orcid.org/0000-0001-8524-4925"]},"institutions":[{"id":"https://openalex.org/I201537933","display_name":"Tohoku University","ror":"https://ror.org/01dq60k83","country_code":"JP","type":"education","lineage":["https://openalex.org/I201537933"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Shigeo Kure","raw_affiliation_strings":["21st COE Program \"Comprehensive Research and Education Center for Planning of Drug Development and Clinical Evaluation\", Tohoku University, Sendai, Japan. skure@mail.tains.tohoku.ac.jp","Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan. skure@mail.tains.tohoku.ac.jp","Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"21st COE Program \"Comprehensive Research and Education Center for Planning of Drug Development and Clinical Evaluation\", Tohoku University, Sendai, Japan. skure@mail.tains.tohoku.ac.jp","institution_ids":["https://openalex.org/I201537933"]},{"raw_affiliation_string":"Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan. skure@mail.tains.tohoku.ac.jp","institution_ids":["https://openalex.org/I201537933"]},{"raw_affiliation_string":"Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan","institution_ids":["https://openalex.org/I201537933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100846331","display_name":"Takayuki Kudo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I201537933","display_name":"Tohoku University","ror":"https://ror.org/01dq60k83","country_code":"JP","type":"education","lineage":["https://openalex.org/I201537933"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takayuki Kudo","raw_affiliation_strings":["Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan","institution_ids":["https://openalex.org/I201537933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101618841","display_name":"Yoichi Suzuki","orcid":"https://orcid.org/0000-0002-3843-5080","observed_orcids":["https://orcid.org/0000-0002-3843-5080"]},"institutions":[{"id":"https://openalex.org/I201537933","display_name":"Tohoku University","ror":"https://ror.org/01dq60k83","country_code":"JP","type":"education","lineage":["https://openalex.org/I201537933"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoichi Suzuki","raw_affiliation_strings":["Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan","institution_ids":["https://openalex.org/I201537933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103102166","display_name":"Takeshi Oshima","orcid":"https://orcid.org/0000-0003-1388-4637","observed_orcids":["https://orcid.org/0000-0003-1388-4637"]},"institutions":[{"id":"https://openalex.org/I201537933","display_name":"Tohoku University","ror":"https://ror.org/01dq60k83","country_code":"JP","type":"education","lineage":["https://openalex.org/I201537933"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takeshi Oshima","raw_affiliation_strings":["Department of Otorhinolaryngology, Head and Neck Surgery, Tohoku University School of Medicine, Sendai, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Otorhinolaryngology, Head and Neck Surgery, Tohoku University School of Medicine, Sendai, Japan","institution_ids":["https://openalex.org/I201537933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089294850","display_name":"Akiko Ichinohe","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I201537933","display_name":"Tohoku University","ror":"https://ror.org/01dq60k83","country_code":"JP","type":"education","lineage":["https://openalex.org/I201537933"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Akiko Ichinohe","raw_affiliation_strings":["Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan","institution_ids":["https://openalex.org/I201537933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111644916","display_name":"Kanako Kojima","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I201537933","display_name":"Tohoku University","ror":"https://ror.org/01dq60k83","country_code":"JP","type":"education","lineage":["https://openalex.org/I201537933"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kanako Kojima","raw_affiliation_strings":["Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan","institution_ids":["https://openalex.org/I201537933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005615341","display_name":"Tetsuya Niihori","orcid":"https://orcid.org/0000-0002-2118-9776","observed_orcids":["https://orcid.org/0000-0002-2118-9776"]},"institutions":[{"id":"https://openalex.org/I201537933","display_name":"Tohoku University","ror":"https://ror.org/01dq60k83","country_code":"JP","type":"education","lineage":["https://openalex.org/I201537933"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Tetsuya Niihori","raw_affiliation_strings":["Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan","institution_ids":["https://openalex.org/I201537933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082127519","display_name":"Junko Kanno","orcid":"https://orcid.org/0009-0003-9026-4244","observed_orcids":["https://orcid.org/0009-0003-9026-4244"]},"institutions":[{"id":"https://openalex.org/I201537933","display_name":"Tohoku University","ror":"https://ror.org/01dq60k83","country_code":"JP","type":"education","lineage":["https://openalex.org/I201537933"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Junko Kanno","raw_affiliation_strings":["Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan","institution_ids":["https://openalex.org/I201537933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047682660","display_name":"Yoko Narumi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I201537933","display_name":"Tohoku University","ror":"https://ror.org/01dq60k83","country_code":"JP","type":"education","lineage":["https://openalex.org/I201537933"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoko Narumi","raw_affiliation_strings":["Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan","institution_ids":["https://openalex.org/I201537933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067673200","display_name":"Ayumi Narisawa","orcid":"https://orcid.org/0000-0001-9280-5495","observed_orcids":["https://orcid.org/0000-0001-9280-5495"]},"institutions":[{"id":"https://openalex.org/I201537933","display_name":"Tohoku University","ror":"https://ror.org/01dq60k83","country_code":"JP","type":"education","lineage":["https://openalex.org/I201537933"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Ayumi Narisawa","raw_affiliation_strings":["Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan","institution_ids":["https://openalex.org/I201537933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081524081","display_name":"Kumi Kato","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I201537933","display_name":"Tohoku University","ror":"https://ror.org/01dq60k83","country_code":"JP","type":"education","lineage":["https://openalex.org/I201537933"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kumi Kato","raw_affiliation_strings":["21st COE Program \"Comprehensive Research and Education Center for Planning of Drug Development and Clinical Evaluation\", Tohoku University, Sendai, Japan","Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"21st COE Program \"Comprehensive Research and Education Center for Planning of Drug Development and Clinical Evaluation\", Tohoku University, Sendai, Japan","institution_ids":["https://openalex.org/I201537933"]},{"raw_affiliation_string":"Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan","institution_ids":["https://openalex.org/I201537933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060474613","display_name":"Yoko Aoki","orcid":"https://orcid.org/0000-0002-1194-6972","observed_orcids":["https://orcid.org/0000-0002-1194-6972"]},"institutions":[{"id":"https://openalex.org/I201537933","display_name":"Tohoku University","ror":"https://ror.org/01dq60k83","country_code":"JP","type":"education","lineage":["https://openalex.org/I201537933"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoko Aoki","raw_affiliation_strings":["21st COE Program \"Comprehensive Research and Education Center for Planning of Drug Development and Clinical Evaluation\", Tohoku University, Sendai, Japan","Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"21st COE Program \"Comprehensive Research and Education Center for Planning of Drug Development and Clinical Evaluation\", Tohoku University, Sendai, Japan","institution_ids":["https://openalex.org/I201537933"]},{"raw_affiliation_string":"Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan","institution_ids":["https://openalex.org/I201537933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034517308","display_name":"Katsuhisa Ikeda","orcid":"https://orcid.org/0000-0001-8920-9916","observed_orcids":["https://orcid.org/0000-0001-8920-9916"]},"institutions":[{"id":"https://openalex.org/I201537933","display_name":"Tohoku University","ror":"https://ror.org/01dq60k83","country_code":"JP","type":"education","lineage":["https://openalex.org/I201537933"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Katsuhisa Ikeda","raw_affiliation_strings":["Department of Otorhinolaryngology, Head and Neck Surgery, Tohoku University School of Medicine, Sendai, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Otorhinolaryngology, Head and Neck Surgery, Tohoku University School of Medicine, Sendai, Japan","institution_ids":["https://openalex.org/I201537933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101658318","display_name":"Toshimitsu Kobayashi","orcid":"https://orcid.org/0000-0001-5269-6140","observed_orcids":["https://orcid.org/0000-0001-5269-6140"]},"institutions":[{"id":"https://openalex.org/I201537933","display_name":"Tohoku University","ror":"https://ror.org/01dq60k83","country_code":"JP","type":"education","lineage":["https://openalex.org/I201537933"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Toshimitsu Kobayashi","raw_affiliation_strings":["Department of Otorhinolaryngology, Head and Neck Surgery, Tohoku University School of Medicine, Sendai, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Otorhinolaryngology, Head and Neck Surgery, Tohoku University School of Medicine, Sendai, Japan","institution_ids":["https://openalex.org/I201537933"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5102725011","display_name":"Yoichi Matsubara","orcid":"https://orcid.org/0000-0001-5990-8214","observed_orcids":["https://orcid.org/0000-0001-5990-8214"]},"institutions":[{"id":"https://openalex.org/I201537933","display_name":"Tohoku University","ror":"https://ror.org/01dq60k83","country_code":"JP","type":"education","lineage":["https://openalex.org/I201537933"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoichi Matsubara","raw_affiliation_strings":["21st COE Program \"Comprehensive Research and Education Center for Planning of Drug Development and Clinical Evaluation\", Tohoku University, Sendai, Japan","Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"21st COE Program \"Comprehensive Research and Education Center for Planning of Drug Development and Clinical Evaluation\", Tohoku University, Sendai, Japan","institution_ids":["https://openalex.org/I201537933"]},{"raw_affiliation_string":"Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan","institution_ids":["https://openalex.org/I201537933"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5073879473"],"corresponding_institution_ids":["https://openalex.org/I201537933"],"apc_list":{"value":5490,"currency":"USD","value_usd":5490},"apc_paid":null,"fwci":1.2302,"has_fulltext":true,"cited_by_count":55,"citation_normalized_percentile":{"value":0.75535513,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"51","issue":"5","first_page":"455","last_page":"460"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10283","display_name":"Hearing Loss and Rehabilitation","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/3616","display_name":"Speech and Hearing"},"field":{"id":"https://openalex.org/fields/36","display_name":"Health Professions"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/kcnq4","display_name":"KCNQ4","score":1.0},{"id":"https://openalex.org/keywords/non-syndromic-hearing-loss","display_name":"non-syndromic hearing loss","score":0.9169999957084656},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.7480000257492065},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8930000066757202},{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"haploinsufficiency","score":0.8809999823570251},{"id":"https://openalex.org/keywords/dominant-negative","display_name":"dominant negative effect","score":0.9760000109672546},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8299999833106995},{"id":"https://openalex.org/keywords/late-onset-hearing-loss","display_name":"late-onset hearing loss","score":0.8009999990463257},{"id":"https://openalex.org/keywords/high-frequency-hearing-loss","display_name":"high-frequency hearing loss","score":0.9459999799728394},{"id":"https://openalex.org/keywords/potassium-channels","display_name":"potassium channels","score":0.7059999704360962},{"id":"https://openalex.org/keywords/pedigree","display_name":"pedigree","score":0.3370000123977661}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.9315855503082275},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.8231998682022095},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.7433437705039978},{"id":"https://openalex.org/C2780493683","wikidata":"https://www.wikidata.org/wiki/Q16035842","display_name":"Hearing loss","level":2,"score":0.7127901315689087},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6163020730018616},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5886750817298889},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.5467414855957031},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.5297585129737854},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5010325908660889},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.4210207760334015},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3811761736869812},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.16346904635429382},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.09091514348983765}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006316","descriptor_name":"Hearing Loss, High-Frequency","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D006316","descriptor_name":"Hearing Loss, High-Frequency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051656","descriptor_name":"KCNQ Potassium Channels","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1007/s10038-006-0384-7","doi":"https://doi.org/10.1007/s10038-006-0384-7","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10038-006-0384-7","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:16596322","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16596322","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of human genetics","raw_type":"Comparative Study"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320320912","display_name":"Ministry of Education, Culture, Sports, Science and Technology","ror":"https://ror.org/048rj2z13"},{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W1938060089","https://openalex.org/W1963768450","https://openalex.org/W1967167967","https://openalex.org/W1981807681","https://openalex.org/W2005875882","https://openalex.org/W2009581629","https://openalex.org/W2012189889","https://openalex.org/W2017428806","https://openalex.org/W2017614800","https://openalex.org/W2020693400","https://openalex.org/W2024052265","https://openalex.org/W2053268514","https://openalex.org/W2063713448","https://openalex.org/W2083299760","https://openalex.org/W2092416040","https://openalex.org/W2099041486","https://openalex.org/W2103113803","https://openalex.org/W2107871825","https://openalex.org/W2116686526","https://openalex.org/W2125372698","https://openalex.org/W2153882917"],"related_works":["https://openalex.org/W2007041969","https://openalex.org/W2153882917","https://openalex.org/W2022864754","https://openalex.org/W7045926629","https://openalex.org/W2251813859","https://openalex.org/W2900389398","https://openalex.org/W2017753640","https://openalex.org/W1981807681","https://openalex.org/W2969226743","https://openalex.org/W2024052265"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2016-06-24T00:00:00"}