Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.C217*
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GJB1

NM_000166.6:p.C217*

Associated Papers

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 Charcot-Marie-Tooth disease.

Scherer SS et al.

Journal of the Peripheral Nervous System : Jpns, 2012

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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."