Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.A457V
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MEFV

NM_000243.3:p.A457V

Associated Papers

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

Neurological involvement in children with familial Mediterranean fever: a systematic review.

La Bella S et al.

Pediatric Rheumatology Online Journal, 2025

Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review

Tufan A et al.

Turkish Journal of Medical Sciences, 2020

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Gaggiano C et al.

Mediators of Inflammation, 2019

Genetics in TNF-TNFR pathway: A complex network causing spondyloarthritis and conditioning response to anti-TNFα therapy.

Aita A et al.

Plos One, 2018

Clinical and Genetic Features of Patients With TNFRSF1A Variants in Japan: Findings of a Nationwide Survey.

Ueda N et al.

Arthritis & Rheumatology (hoboken, N.j.), 2016

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

Petrushkin H et al.

Ocular Immunology and Inflammation, 2016

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Carmi S et al.

Nature Communications, 2014

25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants

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

Association between sequence variations of the Mediterranean fever gene and fibromyalgia syndrome in a cohort of Turkish patients.

Karakus N et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012

Familial Mediterranean fever in Germany: epidemiological, clinical, and genetic characteristics of a pediatric population.

Lainka E et al.

European Journal of Pediatrics, 2012

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

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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."