Varaico: Literature-Extracted Genetic Variants

Gene:GJC1
Variant:p.W77R
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GJC1

NM_005497.4:p.W77R

Associated Papers

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.

Bruzzone R et al.

Febs Letters, 2003

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

Richard G et al.

Human Genetics, 1998

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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."