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Article

Evolutionary origin of pathogenic GJB2 alleles in China.

Clinical genetics - 1 Oct 2022

Jiang Yi, Huang Shasha, Zhang Yi, Fang Nan, Liu Qian, Liu Yunchao, Bai Ling, Han Dongyi, Dai Pu

Abstract excerpt

The frequency of the pathogenic allele of the autosomal recessive deafness gene GJB2 varies among different populations in the world, and accumulates to a sufficiently high frequency in certain population. The purpose of this study is to investigate the origin and evolution of GJB2 pathogenic alleles in Chinese deaf patients. Children with non-syndromic hearing loss, and their parents, from 295 families were...

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Identifiers

PMID: 35841299
DOI: 10.1111/cge.14191

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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