Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.S128delFs
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MVK

NM_000431.4:p.S128delFs

Associated Papers

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

Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.

Govindaraj GM et al.

Plos One, 2020

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."