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Article

[Analysis of DFNA5 gene variant in a Chinese pedigree affected with late-onset non-syndromic hearing loss].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2021

Wang Nuoyang, Chen Canming, Tong Ming, Li Qian, Liu Li, Hu Suwei

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with autosomal dominant late-onset non-syndromic hearing loss (NSHL). METHODS: Clinical data of the pedigree were collected. Genomic DNA was extracted from peripheral blood samples of the proband and other family members. Trio whole exome sequencing was carried out for 19 396 genes to identify potential pathogenic variants. Sanger sequencing...

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Identifiers

PMID: 33565075
DOI: 10.3760/cma.j.cn511374-20200331-00224

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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