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Article

Anakinra-Dependent Recurrent Pericarditis: The Role of the R202Q Variant of the MEFV Gene

11 Oct 2024

Abstract excerpt

Background: the role of the R202Q (c.605G>A, p.Arg202Gln) missense variant of the MEFV gene has been debated as either a benign polymorphism or a potentially pathogenic mutation. We report and discuss here the case of a young female with corticosteroid-dependent recurrent pericarditis carrying the homozygous R202Q variant, exhibiting distinctive clinical features possibly influenced by this genetic variant....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39458001
DOI: 10.3390/jcm13206051

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