Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.E49A
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GJB6

NM_001110219.3:p.E49A

Associated Papers

A pore locus in the E1 domain differentially regulates Cx26 and Cx30 hemichannel function.

Sanchez HA et al.

The Journal of General Physiology, 2024

An Ala/Glu difference in E1 of Cx26 and Cx30 contributes to their differential anionic permeabilities.

Kraujaliene L et al.

The Journal of General Physiology, 2024

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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."