Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.A140A
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GJB4

NM_153212.3:p.A140A

Associated Papers

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.

Gottfried I et al.

Human Molecular Genetics, 2002

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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."