Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.R717S
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MEFV

NM_000243.3:p.R717S

Associated Papers

Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis.

Muhsinoglu O et al.

Ophthalmic Genetics, 2024

Neurological Face of Familial Mediterranean Fever.

Bektaş PC et al.

Turkish Archives of Pediatrics, 2022

Prevalence of Familial Mediterranean Fever in Children with Cryptogenic Cirrhosis.

Varol Fİ et al.

Journal of Tropical Pediatrics, 2021

Long-term follow-up of paediatric MEFV carriers.

Makay B et al.

Clinical Rheumatology, 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

The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis.

Keklik M et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 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

Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system.

Zamani AG et al.

Genetics and Molecular Research : Gmr, 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."