Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.S85C
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GJB2

NM_004004.6:p.S85C

Associated Papers

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1

A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice.

Kuang Y et al.

Ebiomedicine, 2020

Connexinopathies: a structural and functional glimpse.

García IE et al.

Bmc Cell Biology, 2016

Structural studies of the N-terminus of Connexin 32 using 1H NMR spectroscopy.

Kalmatsky BD et al.

Archives of Biochemistry and Biophysics, 2009

Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.

Abrams CK et al.

Brain Research, 2001

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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."