Article
Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significance
Turkish journal of medical sciences - 30 Aug 2021
Sarı Alper, Bodakçi Erdal, Armağan Berkan, Satış Hasan, Ataş Nuh, Yaşar Bilge Nazife Şule, Bilici Salman Reyhan, Yardımcı Gözde Kübra, Babaoğlu Hakan, Kılıç Levent, Öztürk Mehmet Akif, Haznedaroğlu Şeminur, Göker Berna, Kalyoncu Umut, Kaşifoğlu Timuçin, Tufan Abdurrahman
Abstract excerpt
Background/aim: Familial Mediterranean Fever (FMF) is the prototype of hereditary autoinflammatory disorders and caused by mutations on the MEFV gene located on the short arm of chromosome 16. Although some MEFV variants are clearly associated with disease phenotype, there are numerous variants with unknown clinical association which are termed as variants of uncertain significance (VUS). Here, we present...
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