Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.W133delFs
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GJB1

NM_000166.6:p.W133delFs

Associated Papers

Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.

Kavoosi S et al.

Iranian Journal of Public Health, 2025

Systematic review of CMTX1 patients with episodic neurological dysfunction.

Tian D et al.

Annals of Clinical and Translational Neurology, 2021

[Charcot-Marie-Tooth disease showing transient central nervous system lesions after a large amount of alcohol intake: A case report].

Shimizu C et al.

Rinsho Shinkeigaku = Clinical Neurology, 2018

The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits.

Wen Q et al.

Frontiers in Neurology, 2018

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses.

Rajabally YA et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2016

A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease.

Sakaguchi H et al.

Journal of Neurology, 2011

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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."