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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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| Yayımlandı: | Rheumatology (Oxford) |
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| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Oxford University Press
2020
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7188344/ https://ncbi.nlm.nih.gov/pubmed/31411330 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/rheumatology/kez332 |
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