Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.S182T
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GJB1

NM_000166.6:p.S182T

Associated Papers

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

Qi C et al.

Science Advances, 2023

37647412 (PubMed )
Supplement: sciadv.adh4890_sm.pdf

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

Axonal excitability in X-linked dominant Charcot Marie Tooth disease.

Liang C et al.

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2014

Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease.

Kennerson ML et al.

Clinical Chemistry, 2007

Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.

Wang HL et al.

Neurobiology of Disease, 2004

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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."