Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.T186K
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GJB2

NM_004004.6:p.T186K

Associated Papers

Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss.

Markova T et al.

Journal of Personalized Medicine, 2022

Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.

Maslova EA et al.

Biomolecules, 2021

33466560 (PubMed )
Supplement: biomolecules-11-00061-s001.pdf

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

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

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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."