Article

MEFV variant spectrum and exploratory in silico stratification of uncommon variants in 611 individuals tested for suspected familial Mediterranean fever in the Eastern Black Sea region of Türkiye

2026-06-09

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, caused by variants in the <italic>MEFV</italic> gene. Regional <italic>MEFV</italic> variant spectra differ across Türkiye. We characterised the <italic>MEFV</italic> variant spectrum in a single-centre series of individuals tested for suspected FMF in the Eastern...

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Literature Corpus work: 5047f704-100d-528c-a469-3070e52ffac0
DOI: 10.21203/rs.3.rs-9835830/v1

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