Varaico: Literature-Extracted Genetic Variants

Gene:GJC1
Variant:p.V63I
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GJC1

NM_005497.4:p.V63I

Associated Papers

Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).

Matsuyama W et al.

Journal of Human Genetics, 2001

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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."