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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MVK

Variant:p.K26_V27Splc

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MVK

NM_000431.4:p.K26_V27Splc

hg38:chr12:109575996 A>G

Associated Papers

Two Siblings With Recurrent Fevers: The Path to Mevalonate Kinase Deficiency Diagnosis.

Pereira-Nunes J et al.

Cureus, 2023

36788924 (PubMed )

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