Varaico: Literature-Extracted Genetic Variants

Gene:GJC1
Variant:p.R32W
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GJC1

NM_005497.4:p.R32W

Associated Papers

Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations.

Di WL 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."