Article

Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji Cohort

2023-09-26

Abstract excerpt

<h4>Background: </h4> this study aimed to describe the distribution of the genotype and allele frequencies of GJB2 variants in the Chinese population of the Dongfeng Tongji cohort and to analyze the features of the hearing phenotype. <h4>Methods:</h4> we used data from 9910 participants in the Dongfeng Tongji cohort in 2013 and selected nine GJB2 variants. Pure-tone audiometry was employed to measure hearing. Diff...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b2631ed3-b922-5eb1-9f13-01b2c44dc384
DOI: 10.20944/preprints202309.1710.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji CohortDOI 10.20944/preprints202309.1710.v1Read

Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji Cohort.Semantic proximity Read

A large cohort study of GJB2 mutations in Japanese hearing loss patients.Semantic proximity Read

Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation.Semantic proximity Read

Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.Semantic proximity Read

GJB2 mutation spectrum in the Taiwanese population and genotype-phenotype comparisons in patients with hearing loss carrying GJB2 c.109G>A and c.235delC mutations.Semantic proximity Read

Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.Semantic proximity Read

The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals.Semantic proximity Read

Children with GJB2 gene mutations have various audiological phenotypes.Semantic proximity Read

[Variant frequency of GJB2 c.109G>A (p.Val37Ile) in Chinese patients with hearing loss: a systematic review and Meta-analysis].Semantic proximity Read

Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China.Semantic proximity Read

Consensus interpretation of the Met34Thr and Val37Ile variants in <i>GJB2</i> by the ClinGen Hearing Loss Expert PanelSemantic proximity Read

GJB2 p.V37I Mutation Associated With Moderate Nonsyndromic Hearing Loss in an Adult Taiwanese Population.Semantic proximity Read