Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.S749C
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MEFV

NM_000243.3:p.S749C

Associated Papers

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Dundar M et al.

Functional & Integrative Genomics, 2022

Function and mechanism of the pyrin inflammasome.

Heilig R et al.

European Journal of Immunology, 2018

The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.

Vitale A et al.

Internal and Emergency Medicine, 2017

Mutations in the B30.2 domain of pyrin and the risk of ankylosing spondylitis in the Chinese Han population: a case-control study.

He C et al.

Immunology Letters, 2014

Working the endless puzzle of hereditary autoinflammatory disorders.

Caso F et al.

Modern Rheumatology, 2014

Novel therapeutics for the treatment of familial Mediterranean fever: from colchicine to biologics.

Grattagliano I et al.

Clinical Pharmacology and Therapeutics, 2014

Familial mediterranean fever: a fascinating model of inherited autoinflammatory disorder.

Portincasa P et al.

European Journal of Clinical Investigation, 2013

The crystal structure of human pyrin b30.2 domain: implications for mutations associated with familial Mediterranean fever.

Weinert C et al.

Journal of Molecular Biology, 2009

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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."