Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.C60Y
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GJB1

NM_000166.6:p.C60Y

Associated Papers

Systematic review of CMTX1 patients with episodic neurological dysfunction.

Tian D et al.

Annals of Clinical and Translational Neurology, 2021

Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot-Marie-Tooth Type 1: A case report and literature review.

Hu G et al.

Clinical Neurology and Neurosurgery, 2019

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

Wang Y et al.

Journal of Child Neurology, 2016

Novel familial pathogenic mutation in gap junction protein, beta-1 gene (GJB1) associated with transient neurological deficits in a patient with X-linked Charcot-Marie-Tooth disease.

Appu M et al.

Muscle & Nerve, 2014

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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."