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The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance.

Rheumatology (Oxford, England) - 1 May 2025

Ulu Kadir, Coşkuner Taner, Baykal Gülcan Özomay, Yarar Murat Hakkı, Yiğit Ramazan Emre, Türkmen Şeyma, Tunce Eray, Atamyıldız Uçar Sıla, Pirim Gülşah, Eser Metin, Sözeri Betül

Abstract excerpt

OBJECTIVE: To assess the phenotypic characteristics of the patients carrying variants of uncertain significance (VUS) in the Mediterranean fever (MEFV) gene. METHODS: The study included patients carrying only VUS in the MEFV gene. Patients were excluded if they did not meet the paediatric criteria for familial Mediterranean fever (FMF). Patients were assigned to homozygous, compound heterozygous or heterozygous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40067091
DOI: 10.1093/rheumatology/keaf139

Genes

MEFV

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