Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R22P
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GJB1

NM_000166.6:p.R22P

Associated Papers

Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.

Qi C et al.

Science Advances, 2023

Genetic profile of Chinese patients with Charcot-Marie-Tooth disease.

Ouyang ZY et al.

Chinese Medical Journal, 2020

What's the Function of Connexin 32 in the Peripheral Nervous System?

Bortolozzi M

Frontiers in Molecular Neuroscience, 2018

Structural basis for the selective permeability of channels made of communicating junction proteins.

Ek-Vitorin JF et al.

Biochimica Et Biophysica Acta, 2013

A fully atomistic model of the Cx32 connexon.

Pantano S et al.

Plos One, 2008

[The genetic polymorphism of melanoma-associated antigen 1 in Chinese normal donors and hepatoma patients].

Wang LP et al.

Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2004

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

Boerkoel CF et al.

Annals of Neurology, 2002

Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease.

Martin PE et al.

Journal of Neurochemistry, 2000

Connexin32 in the Peripheral Nervous System: Functional Analysis of Mutations Associated with X-linked Charcot-Marie-Tooth Syndrome and Implications for the Pathophysiology of the Disease.

Nicholson SM et al.

Annals of the New York Academy of Sciences, 1999

Connexin32 in the peripheral nervous system. Functional analysis of mutations associated with X-linked Charcot-Marie-Tooth syndrome and implications for the pathophysiology of the disease.

Nicholson SM et al.

Annals of the New York Academy of Sciences, 1999

Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.

Ressot C et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1998

Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.

Latour P et al.

Neurogenetics, 1997

X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.

Ressot C et al.

Human Genetics, 1996

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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."