Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.P180R
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MEFV

NM_000243.3:p.P180R

Associated Papers

Mediterranean fever (MEFV) gene profile and a novel missense mutation (P313H) in Iranian Azari-Turkish patients.

Rostamizadeh L et al.

Annals of Human Genetics, 2020

Function and mechanism of the pyrin inflammasome.

Heilig R et al.

European Journal of Immunology, 2018

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 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

Working the endless puzzle of hereditary autoinflammatory disorders.

Caso F et al.

Modern Rheumatology, 2014

Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children.

Ozen S et al.

Annals of the Rheumatic Diseases, 2014

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

Grattagliano I et al.

Clinical Pharmacology and Therapeutics, 2014

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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."