Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.H20L
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MVK

NM_000431.4:p.H20L

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

Expression, purification, and characterization of His20 mutants of rat mevalonate kinase.

Chu X et al.

Protein Expression and Purification, 2003

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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."