| http://purl.uniprot.org/citations/29850532 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29850532 | http://www.w3.org/2000/01/rdf-schema#comment | "Hereditary nonsyndromic hearing loss is extremely heterogeneous. Mutations in the POU class 4 transcription factor 3 (POU4F3) are known to cause autosomal dominant nonsyndromic hearing loss linked to the loci of DFNA15. In this study, we describe a pathogenic missense mutation in POU4F3 in a four-generation Chinese family (6126) with midfrequency, progressive, and postlingual autosomal dominant nonsyndromic hearing loss (ADNSHL). By combining targeted capture of 129 known deafness genes, next-generation sequencing, and bioinformatic analysis, we identified POU4F3 c.602T>C (p.Leu201Pro) as the disease-causing variant. This variant cosegregated with hearing loss in other family members but was not detected in 580 normal controls or the ExAC database and could be classified as a "pathogenic variant" according to the American College of Medical Genetics and Genomics guidelines. We conclude that POU4F3 c.602T>C (p.Leu201Pro) is related to midfrequency hearing loss in this family. Routine examination of POU4F3 is necessary for the genetic diagnosis of midfrequency hearing loss."xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.org/dc/terms/identifier | "doi:10.1155/2018/5370802"xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/author | "Dai P."xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/author | "Gao X."xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/author | "Li J."xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/author | "Lin X."xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/author | "Su Y."xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/author | "Huang S.S."xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/author | "Bai D."xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/author | "Wang W.Q."xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/author | "Wang G.J."xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/author | "Kang D.Y."xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/author | "Xu J.C."xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/author | "Yuan Y.Y."xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/author | "Zhang M.G."xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/name | "Biomed Res Int"xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/pages | "5370802"xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/title | "A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family."xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://purl.uniprot.org/core/volume | "2018"xsd:string |
| http://purl.uniprot.org/citations/29850532 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/29850532 |
| http://purl.uniprot.org/citations/29850532 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/29850532 |
| http://purl.uniprot.org/uniprot/#_Q15319-mappedCitation-29850532 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/29850532 |
| http://purl.uniprot.org/uniprot/Q15319 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/29850532 |