Varaico: Literature-Extracted Genetic Variants

Gene:VPS13B
Variant:p.D557E
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VPS13B

NM_152564.5:p.D557E

Associated Papers

Cohen syndrome coincident with epidermolytic palmoplantar keratoderma caused by novel KRT9 gene mutation: A rare case report.

Shu Y et al.

Asian Journal of Surgery, 2023

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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."