Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.R253W
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MVK

NM_000431.4:p.R253W

Associated Papers

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

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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."