Varaico: Literature-Extracted Genetic Variants

Gene:GJB5
Variant:p.R42P
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GJB5

NM_005268.4:p.R42P

Associated Papers

The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin.

Bailey RA et al.

International Journal of Molecular Sciences, 2021

Connexin hemichannels influence genetically determined inflammatory and hyperproliferative skin diseases.

Levit NA et al.

Pharmacological Research, 2015

Mechanisms linking connexin mutations to human diseases.

Kelly JJ et al.

Cell and Tissue Research, 2015

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."