Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.Y471*
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MEFV

NM_000243.3:p.Y471*

Associated Papers

The effect of gene dosage and age at the disease onset on the severity of familial Mediterranean fever.

Polat MC et al.

Postgraduate Medicine, 2025

Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study.

Sözeri B et al.

The Turkish Journal of Pediatrics, 2024

Sacroiliitis in familial Mediterranean fever: A rare joint involvement of the disease.

Özçelik E et al.

Journal of Paediatrics and Child Health, 2024

Exploring factors for predicting colchicine responsiveness in children with PFAPA.

Özaslan Z et al.

European Journal of Pediatrics, 2024

Osteopontin as an early predictor of atherosclerosis in attack-free Familial Mediterranean fever patients.

Baspinar O et al.

Medicine, 2023

The role of Mediterranean fever gene variants in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.

Yildiz M et al.

European Journal of Pediatrics, 2021

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

Familial mediterranean fever: a fascinating model of inherited autoinflammatory disorder.

Portincasa P et al.

European Journal of Clinical Investigation, 2013

Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a "heterozygote advantage" in Turkey?

Berdeli A et al.

Genetic Testing and Molecular Biomarkers, 0

Screening of the most common MEFV variants in 416 patients of familial mediterranean fever living in Northwest of Iran.

Gharibi A et al.

Journal of Advanced Pharmaceutical Technology & Research, 0

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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."