Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.G12V
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GJB4

NM_153212.3:p.G12V

Associated Papers

Life cycle of connexins in health and disease.

Laird DW

The Biochemical Journal, 2006

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.

Richard G et al.

The Journal of Investigative Dermatology, 2003

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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."