{"id":"https://openalex.org/W7203481934","doi":"https://doi.org/10.1038/s10038-026-01503-9","title":"Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification","display_name":"Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification","publication_year":2026,"publication_date":"2026-08-14","ids":{"openalex":"https://openalex.org/W7203481934","doi":"https://doi.org/10.1038/s10038-026-01503-9","pmid":"https://pubmed.ncbi.nlm.nih.gov/42601517"},"language":"en","primary_location":{"id":"doi:10.1038/s10038-026-01503-9","doi":"https://doi.org/10.1038/s10038-026-01503-9","is_oa":false,"landing_page_url":"https://doi.org/10.1038/s10038-026-01503-9","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","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/A5055110700","display_name":"Mehmet Burak Mutlu","orcid":"https://orcid.org/0000-0001-7745-8165","observed_orcids":["https://orcid.org/0000-0001-7745-8165"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Mehmet Burak Mutlu","raw_affiliation_strings":["Detagen Genetic Diseases Evaluation Center, Kayseri, T\u00fcrkiye. dr.mutluburak@gmail.com"],"raw_orcid":"https://orcid.org/0000-0001-7745-8165","affiliations":[{"raw_affiliation_string":"Detagen Genetic Diseases Evaluation Center, Kayseri, T\u00fcrkiye. dr.mutluburak@gmail.com","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039256353","display_name":"Abdullah Sezer","orcid":"https://orcid.org/0000-0003-3886-3808","observed_orcids":["https://orcid.org/0000-0003-3886-3808"]},"institutions":[{"id":"https://openalex.org/I4210161153","display_name":"Intergen (Turkey)","ror":"https://ror.org/04fpsr797","country_code":"TR","type":"company","lineage":["https://openalex.org/I4210161153"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Abdullah Sezer","raw_affiliation_strings":["\u0130ntergen Genetics and Rare Diseases Diagnosis Center, Ankara, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0003-3886-3808","affiliations":[{"raw_affiliation_string":"\u0130ntergen Genetics and Rare Diseases Diagnosis Center, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I4210161153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5159443516","display_name":"Elif \u00d6zdemir","orcid":"https://orcid.org/0009-0005-7175-2300","observed_orcids":["https://orcid.org/0009-0005-7175-2300"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Elif \u00d6zdemir","raw_affiliation_strings":["Ata\u015fehirgenetik Genetic Diseases Diagnosis Center, \u0130stanbul, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0009-0005-7175-2300","affiliations":[{"raw_affiliation_string":"Ata\u015fehirgenetik Genetic Diseases Diagnosis Center, \u0130stanbul, T\u00fcrkiye","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084672104","display_name":"Ay\u015fe Ka\u00e7ar Bayram","orcid":"https://orcid.org/0000-0003-0261-9336","observed_orcids":["https://orcid.org/0000-0003-0261-9336"]},"institutions":[{"id":"https://openalex.org/I4405254304","display_name":"Ankara Etlik City Hospital","ror":"https://ror.org/01nk6sj42","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I1303077703","https://openalex.org/I4405254304"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ay\u015fe Ka\u00e7ar Bayram","raw_affiliation_strings":["Department of Pediatric Neurology, University of Health and Sciences, Ankara Etlik City Hospital, Ankara, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0003-0261-9336","affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology, University of Health and Sciences, Ankara Etlik City Hospital, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I4405254304"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056813216","display_name":"Deniz Can G\u00dcVEN","orcid":"https://orcid.org/0000-0002-4293-910X","observed_orcids":["https://orcid.org/0000-0002-4293-910X"]},"institutions":[{"id":"https://openalex.org/I4405254304","display_name":"Ankara Etlik City Hospital","ror":"https://ror.org/01nk6sj42","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I1303077703","https://openalex.org/I4405254304"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Deniz G\u00fcven","raw_affiliation_strings":["Department of Pediatrics, University of Health and Sciences, Ankara Etlik City Hospital, Ankara, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0002-4293-910X","affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Health and Sciences, Ankara Etlik City Hospital, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I4405254304"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101411279","display_name":"\u015e\u00fckriye Y\u0131lmaz","orcid":"https://orcid.org/0000-0002-5777-6147","observed_orcids":["https://orcid.org/0000-0002-5777-6147"]},"institutions":[{"id":"https://openalex.org/I4405254304","display_name":"Ankara Etlik City Hospital","ror":"https://ror.org/01nk6sj42","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I1303077703","https://openalex.org/I4405254304"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"\u015e\u00fckriye Y\u0131lmaz","raw_affiliation_strings":["Department of Pediatric Radiology, University of Health and Sciences, Ankara Etlik City Hospital, Ankara, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0002-5777-6147","affiliations":[{"raw_affiliation_string":"Department of Pediatric Radiology, University of Health and Sciences, Ankara Etlik City Hospital, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I4405254304"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104635374","display_name":"Nil Sazl\u0131","orcid":"https://orcid.org/0009-0006-6740-1169","observed_orcids":["https://orcid.org/0009-0006-6740-1169"]},"institutions":[{"id":"https://openalex.org/I16748637","display_name":"Manisa Celal Bayar University","ror":"https://ror.org/053f2w588","country_code":"TR","type":"education","lineage":["https://openalex.org/I16748637"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Nil Sazl\u0131","raw_affiliation_strings":["Bioengineering Department, Manisa Celal Bayar University, Manisa, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0009-0006-6740-1169","affiliations":[{"raw_affiliation_string":"Bioengineering Department, Manisa Celal Bayar University, Manisa, T\u00fcrkiye","institution_ids":["https://openalex.org/I16748637"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086453425","display_name":"Deniz Karata\u015f","orcid":"https://orcid.org/0000-0002-8176-4883","observed_orcids":["https://orcid.org/0000-0002-8176-4883"]},"institutions":[{"id":"https://openalex.org/I16748637","display_name":"Manisa Celal Bayar University","ror":"https://ror.org/053f2w588","country_code":"TR","type":"education","lineage":["https://openalex.org/I16748637"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Deniz Karata\u015f","raw_affiliation_strings":["Bioengineering Department, Manisa Celal Bayar University, Manisa, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0002-8176-4883","affiliations":[{"raw_affiliation_string":"Bioengineering Department, Manisa Celal Bayar University, Manisa, T\u00fcrkiye","institution_ids":["https://openalex.org/I16748637"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034429065","display_name":"Emine \u00d6z","orcid":"https://orcid.org/0000-0002-6600-9177","observed_orcids":["https://orcid.org/0000-0002-6600-9177"]},"institutions":[{"id":"https://openalex.org/I57913696","display_name":"Istanbul Medeniyet University","ror":"https://ror.org/05j1qpr59","country_code":"TR","type":"education","lineage":["https://openalex.org/I57913696"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Emine \u00d6z","raw_affiliation_strings":["Science and Advanced Technologies Research Center (BILTAM), \u0130stanbul Medeniyet University, \u0130stanbul, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0002-6600-9177","affiliations":[{"raw_affiliation_string":"Science and Advanced Technologies Research Center (BILTAM), \u0130stanbul Medeniyet University, \u0130stanbul, T\u00fcrkiye","institution_ids":["https://openalex.org/I57913696"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084404381","display_name":"Zeynep Bayramlar","orcid":"https://orcid.org/0000-0002-4408-4870","observed_orcids":["https://orcid.org/0000-0002-4408-4870"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Zeynep Bayramlar","raw_affiliation_strings":["Department of Medical Physiology, G\u00f6ztepe Prof. Dr. S\u00fcleyman Yal\u00e7\u0131n City Hospital, \u0130stanbul, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0002-4408-4870","affiliations":[{"raw_affiliation_string":"Department of Medical Physiology, G\u00f6ztepe Prof. Dr. S\u00fcleyman Yal\u00e7\u0131n City Hospital, \u0130stanbul, T\u00fcrkiye","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5027360167","display_name":"\u00d6zlem \u00d6z","orcid":"https://orcid.org/0000-0002-5533-6025","observed_orcids":["https://orcid.org/0000-0002-5533-6025"]},"institutions":[{"id":"https://openalex.org/I80538482","display_name":"Harran University","ror":"https://ror.org/057qfs197","country_code":"TR","type":"education","lineage":["https://openalex.org/I80538482"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"\u00d6zlem \u00d6z","raw_affiliation_strings":["Department of Medical Genetics, Harran University Faculty of Medicine, \u015eanl\u0131urfa, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0002-5533-6025","affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Harran University Faculty of Medicine, \u015eanl\u0131urfa, T\u00fcrkiye","institution_ids":["https://openalex.org/I80538482"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5055110700"],"corresponding_institution_ids":[],"apc_list":{"value":5490,"currency":"USD","value_usd":5490},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.5766781,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"71","issue":"11","first_page":"731","last_page":"740"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13481","display_name":"Neurological diseases and metabolism","score":0.9789999723434448,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"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/T13481","display_name":"Neurological diseases and metabolism","score":0.9789999723434448,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.00570000009611249,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0031999999191612005,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/slc20a2","display_name":"SLC20A2","score":1.0},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.8289999961853027},{"id":"https://openalex.org/keywords/homozygous-truncating-variant","display_name":"homozygous truncating variant","score":0.8119999766349792},{"id":"https://openalex.org/keywords/xpr1","display_name":"XPR1","score":0.7649999856948853},{"id":"https://openalex.org/keywords/vascular-calcification","display_name":"vascular calcification","score":0.7009999752044678},{"id":"https://openalex.org/keywords/refractory-seizures","display_name":"refractory seizures","score":0.574999988079071},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.8479999899864197},{"id":"https://openalex.org/keywords/hemiplegia","display_name":"hemiplegia","score":0.7979999780654907},{"id":"https://openalex.org/keywords/cataract","display_name":"cataract","score":0.824999988079071},{"id":"https://openalex.org/keywords/brain-atrophy","display_name":"brain atrophy","score":0.8149999976158142},{"id":"https://openalex.org/keywords/golgi-fragmentation","display_name":"Golgi fragmentation","score":0.7269999980926514},{"id":"https://openalex.org/keywords/ciliogenesis","display_name":"ciliogenesis","score":0.8679999709129333},{"id":"https://openalex.org/keywords/fibroblast-gene-expression","display_name":"fibroblast gene expression","score":0.6140000224113464},{"id":"https://openalex.org/keywords/disease-spectrum","display_name":"disease spectrum","score":0.4819999933242798}],"concepts":[{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.5824999809265137},{"id":"https://openalex.org/C2779388368","wikidata":"https://www.wikidata.org/wiki/Q3450985","display_name":"Neurodevelopmental disorder","level":3,"score":0.5672000050544739},{"id":"https://openalex.org/C2780309369","wikidata":"https://www.wikidata.org/wiki/Q933382","display_name":"Calcification","level":2,"score":0.5407000184059143},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5019999742507935},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.4860000014305115},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4821999967098236},{"id":"https://openalex.org/C62923972","wikidata":"https://www.wikidata.org/wiki/Q600499","display_name":"Nonsense","level":3,"score":0.48080000281333923},{"id":"https://openalex.org/C58693492","wikidata":"https://www.wikidata.org/wiki/Q551875","display_name":"Neuroimaging","level":2,"score":0.47380000352859497},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.3610000014305115},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3472000062465668},{"id":"https://openalex.org/C2775981168","wikidata":"https://www.wikidata.org/wiki/Q239027","display_name":"Calcinosis","level":3,"score":0.32839998602867126},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.328000009059906},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.32350000739097595},{"id":"https://openalex.org/C2778596996","wikidata":"https://www.wikidata.org/wiki/Q2991265","display_name":"Polymicrogyria","level":3,"score":0.3140999972820282},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.31299999356269836},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.2985000014305115},{"id":"https://openalex.org/C2780130745","wikidata":"https://www.wikidata.org/wiki/Q1650750","display_name":"Neuropathology","level":3,"score":0.2978000044822693},{"id":"https://openalex.org/C195267511","wikidata":"https://www.wikidata.org/wiki/Q5119969","display_name":"Ciliogenesis","level":3,"score":0.289900004863739},{"id":"https://openalex.org/C105951970","wikidata":"https://www.wikidata.org/wiki/Q1036748","display_name":"Loss function","level":4,"score":0.2881999909877777},{"id":"https://openalex.org/C207886595","wikidata":"https://www.wikidata.org/wiki/Q1456138","display_name":"Pathological","level":2,"score":0.27959999442100525},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.27810001373291016},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.27469998598098755},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.27059999108314514},{"id":"https://openalex.org/C2777507709","wikidata":"https://www.wikidata.org/wiki/Q121576","display_name":"Vascular malformation","level":2,"score":0.26669999957084656},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.26420000195503235},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.2612999975681305},{"id":"https://openalex.org/C2778980267","wikidata":"https://www.wikidata.org/wiki/Q1362721","display_name":"Tuberous sclerosis","level":2,"score":0.25619998574256897}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073658","descriptor_name":"Loss of Function Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000089842","descriptor_name":"Xenotropic and Polytropic Retrovirus Receptor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D001927","descriptor_name":"Brain Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002114","descriptor_name":"Calcinosis","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true},{"descriptor_ui":"D002114","descriptor_name":"Calcinosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002114","descriptor_name":"Calcinosis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","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":"D018389","descriptor_name":"Codon, Nonsense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D050611","descriptor_name":"Sodium-Phosphate Cotransporter Proteins, Type III","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1038/s10038-026-01503-9","doi":"https://doi.org/10.1038/s10038-026-01503-9","is_oa":false,"landing_page_url":"https://doi.org/10.1038/s10038-026-01503-9","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:42601517","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42601517","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":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":43,"referenced_works":["https://openalex.org/W1483951471","https://openalex.org/W1972726807","https://openalex.org/W1990038540","https://openalex.org/W2008450065","https://openalex.org/W2016433356","https://openalex.org/W2042737005","https://openalex.org/W2051978340","https://openalex.org/W2061665233","https://openalex.org/W2076456147","https://openalex.org/W2076487370","https://openalex.org/W2114993990","https://openalex.org/W2151492782","https://openalex.org/W2170322951","https://openalex.org/W2195891651","https://openalex.org/W2260628096","https://openalex.org/W2560596251","https://openalex.org/W2768009324","https://openalex.org/W2803773823","https://openalex.org/W2911782269","https://openalex.org/W2935694194","https://openalex.org/W2976915410","https://openalex.org/W2991633817","https://openalex.org/W2996162164","https://openalex.org/W3033376211","https://openalex.org/W3094198064","https://openalex.org/W3140471575","https://openalex.org/W3142862023","https://openalex.org/W3179054707","https://openalex.org/W3194569574","https://openalex.org/W4210699713","https://openalex.org/W4287877473","https://openalex.org/W4313340422","https://openalex.org/W4317512874","https://openalex.org/W4322757351","https://openalex.org/W4361220740","https://openalex.org/W4377142795","https://openalex.org/W4382790639","https://openalex.org/W4400685221","https://openalex.org/W4401754960","https://openalex.org/W4412017856","https://openalex.org/W4413342705","https://openalex.org/W4417023994","https://openalex.org/W4417326103"],"related_works":["https://openalex.org/W7164803722","https://openalex.org/W4389436550","https://openalex.org/W4214844499","https://openalex.org/W4287877473","https://openalex.org/W2915016837","https://openalex.org/W4415447529","https://openalex.org/W2625968809","https://openalex.org/W2174025872","https://openalex.org/W7154713590","https://openalex.org/W2923712927"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2026-08-15T00:00:00"}