Varaico: Literature-Extracted Genetic Variants

Gene:GJC3
Variant:p.W77S
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GJC3

NM_181538.3:p.W77S

Associated Papers

Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.

Cho SH et al.

Bmc Medical Genomics, 2023

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

Adadey SM et al.

Life (basel, Switzerland), 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

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

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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."