{"id":"https://openalex.org/W4387651871","doi":"https://doi.org/10.1080/09513590.2023.2265507","title":"A novel missense variant in LAMC1 identified in a POI family by whole exome sequencing","display_name":"A novel missense variant in LAMC1 identified in a POI family by whole exome sequencing","publication_year":2023,"publication_date":"2023-10-15","ids":{"openalex":"https://openalex.org/W4387651871","doi":"https://doi.org/10.1080/09513590.2023.2265507","pmid":"https://pubmed.ncbi.nlm.nih.gov/37839437"},"language":"en","primary_location":{"id":"doi:10.1080/09513590.2023.2265507","doi":"https://doi.org/10.1080/09513590.2023.2265507","is_oa":true,"landing_page_url":"https://doi.org/10.1080/09513590.2023.2265507","pdf_url":"https://www.tandfonline.com/doi/pdf/10.1080/09513590.2023.2265507?needAccess=true","source":{"id":"https://openalex.org/S144560499","display_name":"Gynecological Endocrinology","issn_l":"0951-3590","issn":["0951-3590","1473-0766"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320449","host_organization_name":"Informa","host_organization_lineage":["https://openalex.org/P4310320449"],"host_organization_lineage_names":["Informa"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Gynecological Endocrinology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://www.tandfonline.com/doi/pdf/10.1080/09513590.2023.2265507?needAccess=true","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5018142936","display_name":"Huanfang Xu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210141683","display_name":"China Academy of Chinese Medical Sciences","ror":"https://ror.org/042pgcv68","country_code":"CN","type":"education","lineage":["https://openalex.org/I4210141683"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Huanfang Xu","raw_affiliation_strings":["Acupuncture and Moxibustion Hospital of China Academy of Chinese Medical Sciences","Institute of Acupuncture and Moxibustion, China Academy of Chinese Medical Sciences","Acupuncture and Moxibustion Hospital of China Academy of Chinese Medical Sciences, Beijing, China","Institute of Acupuncture and Moxibustion, China Academy of Chinese Medical Sciences, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Acupuncture and Moxibustion Hospital of China Academy of Chinese Medical Sciences","institution_ids":["https://openalex.org/I4210141683"]},{"raw_affiliation_string":"Institute of Acupuncture and Moxibustion, China Academy of Chinese Medical Sciences","institution_ids":["https://openalex.org/I4210141683"]},{"raw_affiliation_string":"Acupuncture and Moxibustion Hospital of China Academy of Chinese Medical Sciences, Beijing, China","institution_ids":["https://openalex.org/I4210141683"]},{"raw_affiliation_string":"Institute of Acupuncture and Moxibustion, China Academy of Chinese Medical Sciences, Beijing, China","institution_ids":["https://openalex.org/I4210141683"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100451094","display_name":"Chunyan Wang","orcid":"https://orcid.org/0009-0008-5301-2677","observed_orcids":["https://orcid.org/0009-0008-5301-2677"]},"institutions":[{"id":"https://openalex.org/I200296433","display_name":"Chinese Academy of Medical Sciences & Peking Union Medical College","ror":"https://ror.org/02drdmm93","country_code":"CN","type":"education","lineage":["https://openalex.org/I200296433"]},{"id":"https://openalex.org/I271893122","display_name":"National Health and Family Planning Commission","ror":"https://ror.org/052eegr76","country_code":"CN","type":"government","lineage":["https://openalex.org/I271893122","https://openalex.org/I4210127390"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Chunyan Wang","raw_affiliation_strings":["Center for Genetics, National Research Institute for Family Planning","Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences","Center for Genetics, National Research Institute for Family Planning, Beijing, China","Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Genetics, National Research Institute for Family Planning","institution_ids":[]},{"raw_affiliation_string":"Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences","institution_ids":["https://openalex.org/I200296433"]},{"raw_affiliation_string":"Center for Genetics, National Research Institute for Family Planning, Beijing, China","institution_ids":["https://openalex.org/I271893122"]},{"raw_affiliation_string":"Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China","institution_ids":["https://openalex.org/I200296433"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113744359","display_name":"Han Wei","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I200296433","display_name":"Chinese Academy of Medical Sciences & Peking Union Medical College","ror":"https://ror.org/02drdmm93","country_code":"CN","type":"education","lineage":["https://openalex.org/I200296433"]},{"id":"https://openalex.org/I271893122","display_name":"National Health and Family Planning Commission","ror":"https://ror.org/052eegr76","country_code":"CN","type":"government","lineage":["https://openalex.org/I271893122","https://openalex.org/I4210127390"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Han Wei","raw_affiliation_strings":["Center for Genetics, National Research Institute for Family Planning","Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences","Center for Genetics, National Research Institute for Family Planning, Beijing, China","Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Genetics, National Research Institute for Family Planning","institution_ids":[]},{"raw_affiliation_string":"Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences","institution_ids":["https://openalex.org/I200296433"]},{"raw_affiliation_string":"Center for Genetics, National Research Institute for Family Planning, Beijing, China","institution_ids":["https://openalex.org/I271893122"]},{"raw_affiliation_string":"Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China","institution_ids":["https://openalex.org/I200296433"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001395922","display_name":"Tengyan Li","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I271893122","display_name":"National Health and Family Planning Commission","ror":"https://ror.org/052eegr76","country_code":"CN","type":"government","lineage":["https://openalex.org/I271893122","https://openalex.org/I4210127390"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Tengyan Li","raw_affiliation_strings":["Center for Genetics, National Research Institute for Family Planning","Center for Genetics, National Research Institute for Family Planning, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Genetics, National Research Institute for Family Planning","institution_ids":[]},{"raw_affiliation_string":"Center for Genetics, National Research Institute for Family Planning, Beijing, China","institution_ids":["https://openalex.org/I271893122"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075107472","display_name":"Yigong Fang","orcid":"https://orcid.org/0000-0001-7879-2843","observed_orcids":["https://orcid.org/0000-0001-7879-2843"]},"institutions":[{"id":"https://openalex.org/I4210141683","display_name":"China Academy of Chinese Medical Sciences","ror":"https://ror.org/042pgcv68","country_code":"CN","type":"education","lineage":["https://openalex.org/I4210141683"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Yigong Fang","raw_affiliation_strings":["Acupuncture and Moxibustion Hospital of China Academy of Chinese Medical Sciences","Institute of Acupuncture and Moxibustion, China Academy of Chinese Medical Sciences","Acupuncture and Moxibustion Hospital of China Academy of Chinese Medical Sciences, Beijing, China","Institute of Acupuncture and Moxibustion, China Academy of Chinese Medical Sciences, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Acupuncture and Moxibustion Hospital of China Academy of Chinese Medical Sciences","institution_ids":["https://openalex.org/I4210141683"]},{"raw_affiliation_string":"Institute of Acupuncture and Moxibustion, China Academy of Chinese Medical Sciences","institution_ids":["https://openalex.org/I4210141683"]},{"raw_affiliation_string":"Acupuncture and Moxibustion Hospital of China Academy of Chinese Medical Sciences, Beijing, China","institution_ids":["https://openalex.org/I4210141683"]},{"raw_affiliation_string":"Institute of Acupuncture and Moxibustion, China Academy of Chinese Medical Sciences, Beijing, China","institution_ids":["https://openalex.org/I4210141683"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100415572","display_name":"Binbin Wang","orcid":"https://orcid.org/0000-0002-1597-5930","observed_orcids":["https://orcid.org/0000-0002-1597-5930","https://orcid.org/0000-0003-1886-4993"]},"institutions":[{"id":"https://openalex.org/I200296433","display_name":"Chinese Academy of Medical Sciences & Peking Union Medical College","ror":"https://ror.org/02drdmm93","country_code":"CN","type":"education","lineage":["https://openalex.org/I200296433"]},{"id":"https://openalex.org/I271893122","display_name":"National Health and Family Planning Commission","ror":"https://ror.org/052eegr76","country_code":"CN","type":"government","lineage":["https://openalex.org/I271893122","https://openalex.org/I4210127390"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Binbin Wang","raw_affiliation_strings":["Center for Genetics, National Research Institute for Family Planning","Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences","Center for Genetics, National Research Institute for Family Planning, Beijing, China","Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Genetics, National Research Institute for Family Planning","institution_ids":[]},{"raw_affiliation_string":"Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences","institution_ids":["https://openalex.org/I200296433"]},{"raw_affiliation_string":"Center for Genetics, National Research Institute for Family Planning, Beijing, China","institution_ids":["https://openalex.org/I271893122"]},{"raw_affiliation_string":"Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China","institution_ids":["https://openalex.org/I200296433"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5075107472","https://openalex.org/A5100415572"],"corresponding_institution_ids":["https://openalex.org/I200296433","https://openalex.org/I271893122","https://openalex.org/I4210141683"],"apc_list":null,"apc_paid":null,"fwci":0.6651,"has_fulltext":true,"cited_by_count":4,"citation_normalized_percentile":{"value":0.61878079,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":96,"max":97},"biblio":{"volume":"39","issue":"1","first_page":"2265507","last_page":"2265507"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10390","display_name":"Ovarian function and disorders","score":0.7548999786376953,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10390","display_name":"Ovarian function and disorders","score":0.7548999786376953,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.14900000393390656,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10364","display_name":"Reproductive Biology and Fertility","score":0.0640999972820282,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/premature-ovarian-insufficiency","display_name":"premature ovarian insufficiency","score":1.0},{"id":"https://openalex.org/keywords/lamc1","display_name":"LAMC1","score":0.9980000257492065},{"id":"https://openalex.org/keywords/laminin-gamma1","display_name":"laminin gamma1","score":0.7929999828338623},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9769999980926514},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.9039999842643738},{"id":"https://openalex.org/keywords/novel-pathogenic-variant","display_name":"novel pathogenic variant","score":0.7580000162124634},{"id":"https://openalex.org/keywords/chinese-family","display_name":"Chinese family","score":0.5270000100135803}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8990963697433472},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.8861250877380371},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.8363375663757324},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7879679799079895},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7307400703430176},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6172285079956055},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4808274507522583},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.4750920534133911},{"id":"https://openalex.org/C35794970","wikidata":"https://www.wikidata.org/wiki/Q5243761","display_name":"dbSNP","level":5,"score":0.45446956157684326},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.44395682215690613},{"id":"https://openalex.org/C2775905019","wikidata":"https://www.wikidata.org/wiki/Q192572","display_name":"In silico","level":3,"score":0.41015076637268066},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.17101344466209412},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.16535696387290955}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008322","descriptor_name":"Mammals","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008594","descriptor_name":"Menopause, Premature","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016649","descriptor_name":"Primary Ovarian Insufficiency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016649","descriptor_name":"Primary Ovarian Insufficiency","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1080/09513590.2023.2265507","doi":"https://doi.org/10.1080/09513590.2023.2265507","is_oa":true,"landing_page_url":"https://doi.org/10.1080/09513590.2023.2265507","pdf_url":"https://www.tandfonline.com/doi/pdf/10.1080/09513590.2023.2265507?needAccess=true","source":{"id":"https://openalex.org/S144560499","display_name":"Gynecological Endocrinology","issn_l":"0951-3590","issn":["0951-3590","1473-0766"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320449","host_organization_name":"Informa","host_organization_lineage":["https://openalex.org/P4310320449"],"host_organization_lineage_names":["Informa"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Gynecological Endocrinology","raw_type":"journal-article"},{"id":"doi:10.21203/rs.3.rs-1375481/v1","doi":"https://doi.org/10.21203/rs.3.rs-1375481/v1","is_oa":true,"landing_page_url":"https://doi.org/10.21203/rs.3.rs-1375481/v1","pdf_url":"https://www.researchsquare.com/article/rs-1375481/latest.pdf","source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Research Square","raw_type":"posted-content"},{"id":"pmid:37839437","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37839437","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":"Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:eac42d190cf54f828b61a0915f430c94","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/eac42d190cf54f828b61a0915f430c94","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Gynecological Endocrinology, Vol 39, Iss 1 (2023)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1080/09513590.2023.2265507","doi":"https://doi.org/10.1080/09513590.2023.2265507","is_oa":true,"landing_page_url":"https://doi.org/10.1080/09513590.2023.2265507","pdf_url":"https://www.tandfonline.com/doi/pdf/10.1080/09513590.2023.2265507?needAccess=true","source":{"id":"https://openalex.org/S144560499","display_name":"Gynecological Endocrinology","issn_l":"0951-3590","issn":["0951-3590","1473-0766"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320449","host_organization_name":"Informa","host_organization_lineage":["https://openalex.org/P4310320449"],"host_organization_lineage_names":["Informa"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Gynecological Endocrinology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8560000061988831}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1742170552","display_name":null,"funder_award_id":"2018-I2M-1-004","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G3653269866","display_name":null,"funder_award_id":"81904308","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"}],"funders":[{"id":"https://openalex.org/F4320321001","display_name":"National Natural Science Foundation of China","ror":"https://ror.org/01h0zpd94"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4387651871.pdf","grobid_xml":"https://content.openalex.org/works/W4387651871.grobid-xml"},"referenced_works_count":43,"referenced_works":["https://openalex.org/W1969610015","https://openalex.org/W1977505542","https://openalex.org/W1981283704","https://openalex.org/W2005559414","https://openalex.org/W2006848373","https://openalex.org/W2014639797","https://openalex.org/W2030873226","https://openalex.org/W2037337578","https://openalex.org/W2067793264","https://openalex.org/W2088780763","https://openalex.org/W2096537373","https://openalex.org/W2110188006","https://openalex.org/W2136513422","https://openalex.org/W2145966496","https://openalex.org/W2160995259","https://openalex.org/W2235566502","https://openalex.org/W2309700868","https://openalex.org/W2324374958","https://openalex.org/W2570079876","https://openalex.org/W2787008074","https://openalex.org/W2791467830","https://openalex.org/W2809380818","https://openalex.org/W2886452253","https://openalex.org/W2899857426","https://openalex.org/W2907324822","https://openalex.org/W2936135404","https://openalex.org/W2965059218","https://openalex.org/W2996892563","https://openalex.org/W3006398909","https://openalex.org/W3017068414","https://openalex.org/W3039786936","https://openalex.org/W3040909771","https://openalex.org/W3042969151","https://openalex.org/W3045940211","https://openalex.org/W3088305424","https://openalex.org/W3134285477","https://openalex.org/W3161448449","https://openalex.org/W3190496831","https://openalex.org/W3195366823","https://openalex.org/W3210248852","https://openalex.org/W3213155036","https://openalex.org/W4210751050","https://openalex.org/W4255596106"],"related_works":["https://openalex.org/W4213015323","https://openalex.org/W7167714755","https://openalex.org/W3215460455","https://openalex.org/W3216771244","https://openalex.org/W2899857426","https://openalex.org/W3038580567","https://openalex.org/W1981283704","https://openalex.org/W4210475736","https://openalex.org/W4318982686","https://openalex.org/W4303629108"],"abstract_inverted_index":{"Abstract":[0],"Background:":[1],"Premature":[2],"ovarian":[3,11],"insufficiency":[4],"(POI)":[5],"results":[6,161],"in":[7,43,60,65,83,96,120,136,138,146,155,172],"the":[8,52,71,84,121,156],"loss":[9],"of":[10,18,21,51,70,158],"function":[12],"and":[13,41,73,100],"reproductive":[14],"impairment.":[15],"The":[16],"cause":[17],"most":[19],"cases":[20],"POI":[22,57,122,141],"is":[23],"unclear,":[24],"although":[25],"genetic":[26],"factors":[27],"are":[28],"thought":[29],"to":[30,36,110,115],"be":[31,111],"involved.":[32],"This":[33,91,151],"study":[34],"aimed":[35],"identify":[37],"novel":[38,79,132],"pathogenic":[39],"genes":[40],"variants":[42,171],"a":[44,78,131,139,166],"Chinese":[45,140],"family":[46,53,123],"with":[47,113],"POI.Results:":[48],"An":[49],"assessment":[50],"pedigree":[54],"suggested":[55],"that":[56],"was":[58,93,101,124,144],"inherited":[59,145],"an":[61,147],"autosomal":[62,148],"dominant":[63,149],"manner":[64],"this":[66],"family.":[67],"Whole-exome":[68],"sequencing":[69],"proband":[72],"her":[74],"affected":[75],"mother":[76],"identified":[77],"heterozygous":[80,133],"missense":[81,134],"variant":[82,92,135,152],"laminin":[85],"subunit":[86],"gamma-1":[87],"gene":[88],"(LAMC1;":[89],"NM_002293.4:c.A3281T:p.D1094V).":[90],"not":[94],"found":[95],"any":[97],"public":[98],"databases,":[99],"highly":[102],"conserved":[103],"among":[104],"mammals.":[105],"Online":[106],"software":[107],"predicted":[108],"it":[109],"deleterious":[112],"respect":[114],"protein":[116],"function.":[117],"Its":[118],"presence":[119],"confirmed":[125],"by":[126],"Sanger":[127],"sequencing.Conclusions:":[128],"We":[129],"report":[130],"LAMC1":[137,170],"family,":[142],"which":[143],"manner.":[150],"may":[153],"result":[154],"development":[157],"POI.":[159,173],"Our":[160],"provide":[162],"supporting":[163],"evidence":[164],"for":[165,169],"causative":[167],"role":[168]},"counts_by_year":[{"year":2025,"cited_by_count":4}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2023-10-16T00:00:00"}