Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.F365I
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MVK

NM_000431.4:p.F365I

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

Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review.

Touitou I

Genes & Diseases, 2022

Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.

Boursier G et al.

Journal of Clinical Medicine, 2021

Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis.

Liu Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

Genomic variations of the mevalonate pathway in porokeratosis.

Zhang Z et al.

Elife, 2015

Mutation Analysis of the MVD Gene in a Chinese Family with Disseminated Superficial Actinic Porokeratosis and a Chinese Literature Review.

Qian W et al.

Indian Journal of Dermatology, 0

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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."