Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.K695N
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MEFV

NM_000243.3:p.K695N

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

Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significance

Sarı A et al.

Turkish Journal of Medical Sciences, 2021

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

Tufan A et al.

Turkish Journal of Medical Sciences, 2020

[Periodic fever syndromes].

Helweg-Larsen J et al.

Ugeskrift for Laeger, 2018

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

Grattagliano I et al.

Clinical Pharmacology and Therapeutics, 2014

Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey.

Oztuzcu S et al.

Molecular Biology Reports, 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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