Varaico: Literature-Extracted Genetic Variants

Gene:GJC3
Variant:p.E269D
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GJC3

NM_181538.3:p.E269D

Associated Papers

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

Adadey SM et al.

Life (basel, Switzerland), 2020

Functional analysis of a nonsyndromic hearing loss-associated mutation in the transmembrane II domain of the GJC3 gene.

Wong SH et al.

International Journal of Medical Sciences, 2017

Mechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss.

Su CC et al.

Cell Biochemistry and Biophysics, 2013

A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss.

Hong HM et al.

Human Genetics, 2010

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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."