Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V120E
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GJB1

NM_000166.6:p.V120E

Associated Papers

Systematic review of CMTX1 patients with episodic neurological dysfunction.

Tian D et al.

Annals of Clinical and Translational Neurology, 2021

33314704 (PubMed )
Supplement: ACN3-8-213-s001.docx

Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease.

Kasselimis D et al.

Journal of the International Neuropsychological Society : Jins, 2020

X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association.

Koutsis G et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

Gap junctions in inherited human disease.

Zoidl G et al.

Pflugers Archiv : European Journal of Physiology, 2010

Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. Online.

Karadimas C et al.

Human Mutation, 1999

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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."