Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.C152Y
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MVK

NM_000431.4:p.C152Y

Associated Papers

The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases.

Zinterl C et al.

Journal of Multidisciplinary Healthcare, 2022

Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.

Boursier G et al.

Journal of Clinical Medicine, 2021

33917151 (PubMed )
Supplement: jcm-10-01552-s001.zip › TableS1_Distribution-variants_Revised.xlsx › Feuil2

Novel mevalonate kinase missense mutation in a patient with disseminated superficial actinic porokeratosis.

Glinos GD et al.

Jaad Case Reports, 2018

The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.

Ter Haar NM et al.

Arthritis & Rheumatology (hoboken, N.j.), 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."