Varaico: Literature-Extracted Genetic Variants

Gene:GJB5
Variant:p.F137L
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GJB5

NM_005268.4:p.F137L

Associated Papers

Connexins and skin disease: insights into the role of beta connexins in skin homeostasis.

Martin PE et al.

Cell and Tissue Research, 2015

Connexins in epidermal homeostasis and skin disease.

Scott CA et al.

Biochimica Et Biophysica Acta, 2012

Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis.

Plantard L et al.

Human Molecular Genetics, 2003

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."