Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.P228S
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MVK

NM_000431.4:p.P228S

Associated Papers

Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis.

Yang Y et al.

The British Journal of Dermatology, 2026

Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.

Özkılınç Önen M et al.

Rheumatology (oxford, England), 2023

Genomic variations of the mevalonate pathway in porokeratosis.

Zhang Z et al.

Elife, 2015

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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."