Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.M680V
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MEFV

NM_000243.3:p.M680V

Associated Papers

Genetic, and clinical features in Italian and lebanese subjects with familial mediterranean fever (FMF).

Jaber N et al.

European Journal of Internal Medicine, 2026

Non-canonical manifestations of FMF in homozygous M694V MEFV genotype: Insights from a large patient cohort.

Giat E et al.

Seminars in Arthritis and Rheumatism, 2025

An Update on Familial Mediterranean Fever.

Lancieri M et al.

International Journal of Molecular Sciences, 2023

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

Comorbidities and phenotype-genotype correlation in children with familial Mediterranean fever.

Ayaz NA et al.

Rheumatology International, 2021

A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.

Balta B et al.

Molecular Biology Reports, 2020

Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis.

Horovitz Y et al.

International Journal of Rheumatic Diseases, 2018

A survey of resistance to colchicine treatment for French patients with familial Mediterranean fever.

Corsia A et al.

Orphanet Journal of Rare Diseases, 2017

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

Grattagliano I et al.

Clinical Pharmacology and Therapeutics, 2014

Rare MEFV variants are not associated with risk to develop multiple sclerosis and severity of disease.

Pauwels I et al.

Multiple Sclerosis (houndmills, Basingstoke, England), 2013

Common MEFV mutation analysis in 36 Iranian patients with familial Mediterranean fever: clinical and demographic significance.

Bidari A et al.

Modern Rheumatology, 2010

Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.

Feng J et al.

Plos One, 2009

Compound heterozygosity for three common MEFV mutations in a highly consanguineous family with familial Mediterranean fever.

Seidel H et al.

European Journal of Pediatrics, 2008

Sacroiliitis in familial Mediterranean fever and seronegative spondyloarthropathy: importance of differential diagnosis.

Balaban B et al.

Rheumatology International, 2005

Familial Mediterranean fever: effects of genotype and ethnicity on inflammatory attacks and amyloidosis.

Mimouni A et al.

Pediatrics, 2000

MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever.

Akar N et al.

Human Mutation, 2000

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

Bernot A et al.

Human Molecular Genetics, 1998

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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."