Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.C211S
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GJB2

NM_004004.6:p.C211S

Associated Papers

Cryo-EM structure of an open conformation of a gap junction hemichannel in lipid bilayer nanodiscs.

Khan AK et al.

Structure (london, England : 1993), 2021

A Steric "Ball-and-Chain" Mechanism for pH-Mediated Regulation of Gap Junction Channels.

Khan AK et al.

Cell Reports, 2020

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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."