Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.W3S
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GJB1

NM_000166.6:p.W3S

Associated Papers

Lipid dependence of connexin-32 gap junction channel conformations.

Lavriha P et al.

Nature Communications, 2025

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

Qi C et al.

Science Advances, 2023

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

Bortolozzi M

Frontiers in Molecular Neuroscience, 2018

Connexinopathies: a structural and functional glimpse.

García IE et al.

Bmc Cell Biology, 2016

X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.

Kim Y et al.

Clinical Genetics, 2012

Gap junction disorders of myelinating cells.

Kleopa KA et al.

Reviews in the Neurosciences, 2010

Cellular mechanisms of connexin32 mutations associated with CNS manifestations.

Kleopa KA et al.

Journal of Neuroscience Research, 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

The biology and pathobiology of Schwann cells.

Scherer SS

Current Opinion in Neurology, 1997

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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."