Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.V27M
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GJB3

NM_024009.3:p.V27M

Associated Papers

A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update.

Gao Y et al.

Frontiers in Genetics, 2022

Congenital hearing loss: a literature review of the genetic etiology in a Mexican population.

Torre-González C et al.

Boletin Medico Del Hospital Infantil De Mexico, 2022

Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.

Adadey SM et al.

Life (basel, Switzerland), 2020

Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.

Sampaio-Silva J et al.

Annals of Human Genetics, 2018

Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.

Yao G et al.

Acta Oto-laryngologica, 2013

Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.

Oh SK et al.

Biochimica Et Biophysica Acta, 2013

[Study on mutations in the connexin 26 gene among Chinese with nonsyndromic hearing loss].

Ke X et al.

Zhonghua Er Bi Yan Hou Ke Za Zhi, 2001

Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).

Lin D et al.

Human Mutation, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."