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Article

[Analysis of genotype-phenotype correlation for GJB2 in 221 non-syndromic deafness probands and their pedigrees].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery - 1 Dec 2013

Yu Xiao, Chen Bo-bei, Xiang Hai-jie, Nan Ben-yu, Zheng Jing, Zhang Chu-qin, Gao Jin-jian, Zheng Bin-jiao, Chen Ying-ying, Guan Min-xin

Abstract excerpt

OBJECTIVE: To assess the possible genotype-phenotype correlation for GJB2. METHODS: Retrospectively analyzed GJB2 gene mutations with non-syndromic hearing impairment (NSHI) patients and their families audiological data. Individuals were grouped, according to non-truncated mutant (non-truncating, NT) and truncating mutations (truncating, T), into T/T group, T/NT group and NT/NT group. And according to whether...

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Identifiers

PMID: 24506997

Genes

GJB2

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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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