Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.C179G
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GJB1

NM_000166.6:p.C179G

Associated Papers

A novel mutation of gap junction protein β 1 gene in X-linked Charcot-Marie-Tooth disease.

Chen SD et al.

Muscle & Nerve, 2011

Mild form of Charcot-Marie-Tooth type 1X disease caused by a novel Cys179Gly mutation in the GJB1/Cx32 gene.

Moszyńka I et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 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."