Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.G12C
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GJB6

NM_001110219.3:p.G12C

Associated Papers

The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates.

Kriukelis R et al.

European Journal of Human Genetics : Ejhg, 2025

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

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.

Hernández-Juárez AA et al.

International Journal of Pediatric Otorhinolaryngology, 2014

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007

DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.

Tang HY et al.

American Journal of Medical Genetics. Part A, 2006

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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."