Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.P283L
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MEFV

NM_000243.3:p.P283L

Associated Papers

Association of Inflammasome Gene Expression Levels with Pathogenesis of Familial Mediterranean Fever in Armenians.

Hayrapetyan V et al.

International Journal of Molecular Sciences, 2024

Generation of iPSCs from a Patient with the M694V Mutation in the MEFV Gene Associated with Familial Mediterranean Fever and Their Differentiation into Macrophages.

Grigor'eva EV et al.

International Journal of Molecular Sciences, 2024

An Update on Familial Mediterranean Fever.

Lancieri M et al.

International Journal of Molecular Sciences, 2023

Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern Lebanon.

El Roz A et al.

Medical Sciences (basel, Switzerland), 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

Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V).

Gunesacar R et al.

Gene, 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

Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature.

Touitou I

Journal of Medical Genetics, 2013

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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."