Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.S179I
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MEFV

NM_000243.3:p.S179I

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

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

Özçelik E et al.

Journal of Paediatrics and Child Health, 2024

Frequency of Familial Mediterranean Fever Gene Mutation in Patients Presenting With Joint Pain and Diagnosed With Acute Rheumatic Fever.

Gullu UU et al.

Cureus, 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

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

Working the endless puzzle of hereditary autoinflammatory disorders.

Caso F et al.

Modern Rheumatology, 2014

Familial Mediterranean fever with amyloidosis associated with novel exon 2 mutation (S1791) of the MEFV gene.

Timmann C et al.

Blood Cells, Molecules & Diseases, 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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