Varaico: Literature-Extracted Genetic Variants

Gene:CST7
Variant:p.C110Y
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CST7

NM_003650.4:p.C110Y

Associated Papers

Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.

Li M et al.

American Journal of Human Genetics, 2013

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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."