Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V35L
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GJB1

NM_000166.6:p.V35L

Associated Papers

Systematic review of CMTX1 patients with episodic neurological dysfunction.

Tian D et al.

Annals of Clinical and Translational Neurology, 2021

Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report.

Liang Y et al.

Bmc Neurology, 2019

[Episodic central nervous system symptoms with reversible white matter involvement in Chinese patients with X-linked Charcot-Marie-Tooth disease and literatures review].

Zhang HH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013

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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."