Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.N54K
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GJB1

NM_000166.6:p.N54K

Associated Papers

A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.

Ahmad R et al.

Neurogenetics, 2025

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.

Iossa S et al.

Current Genomics, 2011

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

Bazazzadegan N et al.

American Journal of Medical Genetics. Part A, 2011

Connexin-26 mutations in deafness and skin disease.

Lee JR et al.

Expert Reviews in Molecular Medicine, 2009

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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."