Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.R354W
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MEFV

NM_000243.3:p.R354W

Associated Papers

Is the decision maker a key determinant of colchicine withdrawal success in paediatric heterozygous familial Mediterranean fever patients?

Özomay Baykal G et al.

Scandinavian Journal of Rheumatology, 2026

Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever.

Elhani I et al.

Rmd Open, 2024

Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study.

Sözeri B et al.

The Turkish Journal of Pediatrics, 2024

Complexity of familial Mediterranean fever genetics.

İlgen U

European Journal of Rheumatology, 2020

The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T).

Gumus E

Journal of Clinical Medicine, 2018

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

Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.

Fujikura K

Molecular Genetics & Genomic Medicine, 2015

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

In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics.

Tchernitchko D et al.

Clinical Chemistry, 2004

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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."