Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.L39F
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MVK

NM_000431.4:p.L39F

Associated Papers

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.

Papa R et al.

Orphanet Journal of Rare Diseases, 2017

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

Dysregulation of innate immunity: hereditary periodic fever syndromes.

Bodar EJ et al.

British Journal of Haematology, 2009

The tumour necrosis factor receptor-associated periodic syndrome: current concepts.

Stojanov S et al.

Expert Reviews in Molecular Medicine, 2005

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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."