Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.N175H
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GJB1

NM_000166.6:p.N175H

Associated Papers

Extracellular domains play different roles in gap junction formation and docking compatibility.

Bai D et al.

The Biochemical Journal, 2014

A mechanism of gap junction docking revealed by functional rescue of a human-disease-linked connexin mutant.

Gong XQ et al.

Journal of Cell Science, 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."