Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significance
Alper SariErdal BodakciBerkan ArmağanHasan SatişNuh AtasNazife Şule Yaşar BilgeReyhan Bilici SalmanGözde Kübra YardimciHakan BabaogluLevent KilicMehmet Akif OzturkSeminur HaznedaroğluBerna GökerUmut KalyoncuTimucin KaşifogluAbdurrahman TufanPublished in: Turkish journal of medical sciences (2021)
Our findings suggest that patients with single heterozygous VUS has mild FMF phenotype similar to those with single pathogenic mutation. Pathogenic/VUS complex heterozygosity does not lead to a more severe clinical phenotype than having a single pathogenic variant.