Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.G140fs
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MVK

NM_000431.4:p.G140fs

Associated Papers

Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.

Kışla Ekinci RM et al.

Archives of Rheumatology, 2023

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

Tanaka T et al.

Modern Rheumatology, 2019

The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.

Cantarini L et al.

Clinical Rheumatology, 2015

Working the endless puzzle of hereditary autoinflammatory disorders.

Caso F et al.

Modern Rheumatology, 2014

Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2011

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."