Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.G335S
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MVK

NM_000431.4:p.G335S

Associated Papers

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

33917151 (PubMed )
Supplement: jcm-10-01552-s001.zip › TableS1_Distribution-variants_Revised.xlsx › Feuil2

In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.

Browne C et al.

Annals of Human Genetics, 2015

Genomic variations of the mevalonate pathway in porokeratosis.

Zhang Z et al.

Elife, 2015

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