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Article

SpeckSeq enables high-throughput functional stratification of MEFV variants in autoinflammatory diseases

29 Oct 2025

Abstract excerpt

Variants of uncertain significance (VUS) are a major obstacle in genetic diagnosis, particularly when involving gain-of-function (GoF) mutations that are poorly predicted in silico. MEFV, which encodes the inflammasome sensor pyrin, is mutated in two autoinflammatory diseases, familial Mediterranean fever (FMF) and pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND). Here, we developed...

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PMID: 41335224
DOI: 10.1084/jem.20251065

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SpeckSeq enables high-throughput functional stratification of MEFV variants in autoinflammatory diseasesPMID 41335224Read ↗

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