Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.N54H
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GJB1

NM_000166.6:p.N54H

Associated Papers

A Review of X-linked Charcot-Marie-Tooth Disease.

Wang Y et al.

Journal of Child Neurology, 2016

Connexins and skin disease: insights into the role of beta connexins in skin homeostasis.

Martin PE et al.

Cell and Tissue Research, 2015

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

Iossa S et al.

Current Genomics, 2011

Connexin-26 mutations in deafness and skin disease.

Lee JR et al.

Expert Reviews in Molecular Medicine, 2009

Persistent CNS dysfunction in a boy with CMT1X.

Siskind C et al.

Journal of the Neurological Sciences, 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."