Varaico: Literature-Extracted Genetic Variants

Gene:GJC3
Variant:p.R15G
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GJC3

NM_181538.3:p.R15G

Associated Papers

Mechanism of connexin channel inhibition by mefloquine and 2-aminoethoxydiphenyl borate.

Lavriha P et al.

Plos One, 2024

Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.

Abrams CK

Biomolecules, 2023

On the molecular nature of large-pore channels.

Syrjanen J et al.

Journal of Molecular Biology, 2021

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

Adadey SM et al.

Life (basel, Switzerland), 2020

Cryo-EM structure of human Cx31.3/GJC3 connexin hemichannel.

Lee HJ et al.

Science Advances, 2020

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

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

Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation.

Yang JJ et al.

Human Genetics, 2010

Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India.

Ramchander PV et al.

Genetic Testing and Molecular Biomarkers, 2010

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."