Whole exome sequencing identifies a novelDFNA9mutation, C162Y
Author:
Affiliation:
1. Laboratory Center; Peking University First Hospital; Beijing; China
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference11 articles.
1. An overview of hereditary hearing loss;Bayazit;ORL J Otorhinolaryngol Relat Spec,2006
2. Whole-exome sequencing: a powerful technique for identifying novel genes of complex disorders;Sanders;Clin Genet,2011
3. Novel genomic techniques open new avenues in the analysis of monogenic disorders;Kuhlenbaumer;Hum Mutat,2011
4. Comprehensive comparison of three commercial human whole-exome capture platforms;Asan;Genome Biol,2011
5. Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9;Robertson;Genomics,1997
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1. Pathogenic Variants in the COCH Gene That Lead to Hearing Loss and Vestibular Deficit: Update on DFNA9 and Introducing DFNB110;B-ENT;2022-10-27
2. Involvement of cochlin binding to sulfated heparan sulfate/heparin in the pathophysiology of autosomal dominant late-onset hearing loss (DFNA9);PLOS ONE;2022-07-28
3. Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis;Biomolecules;2022-01-27
4. COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype–genotype study;Human Genetics;2021-09-16
5. On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice;Hearing Research;2021-03
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