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Article

Before calling it FMF: MEFV variants of uncertain significance in autoinflammatory disease.

Rheumatology (Oxford, England) - 3 Jun 2026

Cam Veysel, Cingoz Elif, Ercan Emreol Hulya, Unal Dilara, Bayindir Yagmur, Aliyev Emil, Erkan Mehmet Orhan, Banak Ozlem Necipoglu, Dara Kar Hazel Delal, Basaran Ozge, Bilginer Yelda, Sag Erdal, Ozen Seza

Abstract excerpt

OBJECTIVES: Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent febrile attacks and serositis, with a high prevalence and carrier frequency of MEFV variants in eastern Mediterranean populations. In this setting, interpretation of MEFV variants of uncertain significance (VUS) is challenging, and their clinical relevance remains controversial. We aimed to describe the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42135612
DOI: 10.1093/rheumatology/keag252
PMCID: PMC13244793

Genes

MEFV

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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