Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.G198R
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MVK

NM_000431.4:p.G198R

Associated Papers

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Gaggiano C et al.

Mediators of Inflammation, 2019

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

Hereditary autoinflammatory syndromes: a Brazilian multicenter study.

Jesus AA et al.

Journal of Clinical Immunology, 2012

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.

Hoffman HM et al.

Nature Genetics, 2001

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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."