Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.S108R
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MEFV

NM_000243.3:p.S108R

Associated Papers

Familial Mediterranean fever in children from central-southern Italy: a multicentric retrospective cohort study.

La Bella S et al.

Clinical Rheumatology, 2024

Molecular analyses of MEFV gene mutation variants in Turkish population.

Aksoy R et al.

Molecular Biology Reports, 2024

An Update on Familial Mediterranean Fever.

Lancieri M et al.

International Journal of Molecular Sciences, 2023

Contribution of Arab Countries to Familial Mediterranean Fever Research: a PubMed-based bibliometric analysis.

Masri DE et al.

Rheumatology International, 2022

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

The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey.

Kilinc M et al.

Rheumatology International, 2016

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

The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey.

Sayın Kocakap DB et al.

Molecular Biology Reports, 2014

Increased NLRP3-dependent interleukin 1β secretion in patients with familial Mediterranean fever: correlation with MEFV genotype.

Omenetti A 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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

The population genetics of familial mediterranean fever: a meta-analysis study.

Papadopoulos VP et al.

Annals of Human Genetics, 2008

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

Tchernitchko D et al.

Clinical Chemistry, 2004

Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.

Medlej-Hashim M et al.

European Journal of Medical Genetics, 0

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