Varaico: Literature-Extracted Genetic Variants

Gene:GJB5
Variant:p.C86S
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GJB5

NM_005268.4:p.C86S

Associated Papers

Key functions for gap junctions in skin and hearing.

Scott CA et al.

The Biochemical Journal, 2011

A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.

Morley SM et al.

The British Journal of Dermatology, 2005

Connexins: a connection with the skin.

Richard G

Experimental Dermatology, 2000

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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."