Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V170I
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GJB1

NM_000166.6:p.V170I

Associated Papers

Molecular dynamics simulation of GJC2 mutants reveal pathogenic mechanisms of PMLD1 and SPG44.

Gong D et al.

The Journal of General Physiology, 2025

Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement.

Karadima G et al.

Journal of the Neurological Sciences, 2014

Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease.

Brozková D 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."