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Article

Children with GJB2 gene mutations have various audiological phenotypes.

Bioscience trends - 19 Sept 2018

Wang Xianlei, Huang Lihui, Zhao Xuelei, Wang Xueyao, Cheng Xiaohua, Du Yating, Liu Dongxin

Abstract excerpt

The current study retrospectively investigated variations in audiological phenotypes in children with GJB2 gene mutations. Subjects were 128 infants and young children who were seen as outpatients by Otology at Beijing Tongren Hospital from 2012 to 2018. Of the 128 subjects, 99 had biallelic truncating (T/T) mutations and 29 had truncating/nontruncating (T/NT) mutations. Genotypes, results of universal newborn...

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Source

Identifiers

PMID: 30146550
DOI: 10.5582/bst.2018.01159

Genes

GJB2

Provenance

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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