Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.L709R
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MEFV

NM_000243.3:p.L709R

Associated Papers

Correlation genotype-phenotype: MEFV gene mutations and Moroccan patients with rheumatoid arthritis.

Missoum H et al.

The Pan African Medical Journal, 2022

Novel Deleterious nsSNPs within MEFV Gene that Could Be Used as Diagnostic Markers to Predict Hereditary Familial Mediterranean Fever: Using Bioinformatics Analysis.

Mustafa MI et al.

Advances in Bioinformatics, 2019

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

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

Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a "heterozygote advantage" in Turkey?

Berdeli A et al.

Genetic Testing and Molecular Biomarkers, 0

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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."