Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.P138S
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MVK

NM_000431.4:p.P138S

Associated Papers

A novel missense mutation in the MVK gene is associated with disseminated superficial porokeratosis.

Hui HZ et al.

International Journal of Dermatology, 2023

Genomic variations of the mevalonate pathway in porokeratosis.

Zhang Z et al.

Elife, 2015

26202976 (PubMed )
Supplement: elife06322s003.docx
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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."