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

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 (RE...

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Detalles Bibliográficos
Autores principales:	Accetturo, Matteo, D’Uggento, Angela Maria, Portincasa, Piero, Stella, Alessandro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2020
Materias:	Clinical Science
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7188344/ https://www.ncbi.nlm.nih.gov/pubmed/31411330 http://dx.doi.org/10.1093/rheumatology/kez332

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