Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.C64Y
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GJB1

NM_000166.6:p.C64Y

Associated Papers

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

Kasselimis D et al.

Journal of the International Neuropsychological Society : Jins, 2020

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

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

Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.

Sun B et al.

Journal of the Peripheral Nervous System : Jpns, 2017

Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants.

Tang BS

Chinese Medical Journal, 2016

Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients.

Sun B et al.

Chinese Medical Journal, 2016

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

Wang Y et al.

Journal of Child Neurology, 2016

[The clinical presentation and gene mutation of probands in Chinese patients with Charcot-Marie-Tooth disease].

Liu X et al.

Zhonghua Nei Ke Za Zhi, 2015

Relapsing remitting multiple sclerosis in x-linked charcot-marie-tooth disease with central nervous system involvement.

Koutsis G et al.

Case Reports in Neurological Medicine, 2015

Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement.

Karadima G et al.

Journal of the Neurological Sciences, 2014

[Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease].

Luo W et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003

A new mutation in the connexin 32 gene was found in Charcot- Marie-Tooth disease in Chinese patients.

Da Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2000

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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."