Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R215Q
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GJB1

NM_000166.6:p.R215Q

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

Targeting motifs and functional parameters governing the assembly of connexins into gap junctions.

Martin PE et al.

The Biochemical Journal, 2000

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

Martin PE et al.

Journal of Neurochemistry, 2000

Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.

Castro C et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1999

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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."