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Article

Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever

18 Jul 2019

Abstract excerpt

OBJECTIVE: FMF is an inherited autoinflammatory syndrome caused by mutations in the MEFV gene. MEFV variants are still largely classified as acvariant of uncertain significance, or with unresolved classification, posing significant challenges in FMF diagnosis. Rare Exome Variant Ensemble Learner (REVEL) is a recently developed variant metapredictor tool. To reduce the number of MEFV variants with ambiguous...

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PMID: 31411330
DOI: 10.1093/rheumatology/kez332

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