Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.D66N
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GJB1

NM_000166.6:p.D66N

Associated Papers

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Record CJ et al.

Brain : a Journal of Neurology, 2023

37284795 (PubMed )
Supplement: awad187_supplementary_data.zip › Supp_data_2_working_v2.pdf

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

[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

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

Wang Y et al.

Journal of Child Neurology, 2016

MRI findings in X-linked Charcot-Marie-Tooth disease associated with a novel connexin 32 mutation.

U-King-Im JM et al.

Clinical Radiology, 2011

The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.

Taylor RA et al.

Neurology, 2003

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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."