Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.G25G
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MVK

NM_000431.4:p.G25G

Associated Papers

Tocilizumab effectively reduces flares of hyperimmunoglobulin D syndrome in children: Three cases in China.

Li C et al.

Molecular Genetics and Metabolism Reports, 2024

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

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

Mandey SH et al.

Human Mutation, 2006

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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."