Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.G309V
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MVK

NM_000431.4:p.G309V

Associated Papers

An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment.

Koç Yekedüz M et al.

Molecular Syndromology, 2022

Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis.

Li L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

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

A novel mutation for disseminated superficial actinic porokeratosis in the MVK gene.

Zhou MS et al.

The British Journal of Dermatology, 2014

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."