Varaico: Literature-Extracted Genetic Variants

Gene:HPGDS
Variant:p.K112*
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HPGDS

NM_014485.3:p.K112*

Associated Papers

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

Houten SM et al.

Human Molecular Genetics, 1999

Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

Hinson DD et al.

American Journal of Human Genetics, 1999

Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.

Hinson DD et al.

The Journal of Biological Chemistry, 1997

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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."