Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.A382_T383del2
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MVK

NM_000431.4:p.A382_T383del2

Associated Papers

National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.

Tanaka T et al.

Modern Rheumatology, 2019

Febrile attacks triggered by milk allergy in an infant with mevalonate kinase deficiency.

Nakashimai H et al.

Rheumatology International, 2016

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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."