Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.A382P
Back to variants list

MVK

NM_000431.4:p.A382P

Associated Papers

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.

Brennenstuhl H et al.

Journal of Inherited Metabolic Disease, 2021

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

Boursier G et al.

Journal of Clinical Medicine, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."