Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.M694K
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MEFV

NM_000243.3:p.M694K

Associated Papers

An Update on Familial Mediterranean Fever.

Lancieri M et al.

International Journal of Molecular Sciences, 2023

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Dundar M et al.

Functional & Integrative Genomics, 2022

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

Dominant familial Mediterranean fever.

Sarrabay G et al.

Rheumatology (oxford, England), 2017

Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.

Rowczenio DM et al.

Rheumatology (oxford, England), 2017

Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment.

Petrushkin H et al.

Ocular Immunology and Inflammation, 2016

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

Grattagliano I et al.

Clinical Pharmacology and Therapeutics, 2014

Secondary amyloidosis in a patient carrying mutations in the familial Mediterranean fever (FMF) and tumour necrosis factor receptor-1 syndrome (TRAPS) genes.

Clementi A et al.

Clinical Kidney Journal, 2013

Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey.

Yesilada E et al.

Gene, 2012

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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."