Varaico: Literature-Extracted Genetic Variants

Gene:GJC3
Variant:p.L23H
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GJC3

NM_181538.3:p.L23H

Associated Papers

Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.

Abrams CK

Biomolecules, 2023

Cryo-EM structure of human Cx31.3/GJC3 connexin hemichannel.

Lee HJ et al.

Science Advances, 2020

Functional analysis of a nonsyndromic hearing loss-associated mutation in the transmembrane II domain of the GJC3 gene.

Wong SH et al.

International Journal of Medical Sciences, 2017

Mechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss.

Su CC et al.

Cell Biochemistry and Biophysics, 2013

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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."