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RE-EVALUATION OF <i>MEFV</i> GENE VARIANTS: UTILITY OF A GENE SPECIFIC THRESHOLD IN REDUCING THE NUMBER OF VARIANTS OF UNKNOWN SIGNIFICANCE

2019-01-28

Abstract excerpt

Familial Mediterranean Fever (FMF) is an inherited autoinflammatory syndrome caused by mutations in the MEFV gene. MEFV variants are still in large part classified as variant of uncertain significance (VOUS), or with classification unresolved, posing significant challenges in the clinical diagnosis of Familial Mediterranean Fever (FMF). REVEL is a recently developed variant metapredictor tool. To reduce the numb...

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Literature Corpus work
ea97a3c4-d628-5797-a075-af2abffcd9f5
DOI
10.1101/532804
Open publication

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