The recurrent SACS gene p.Arg272His hotspot expands the neurodevelopmental and cognitive spectrum of ARSACS. Sortino V, Sapuppo A, Bernabini A, Pappalardo X G, Falsaperla R, Di Pasquale G, Salpietro V Neurogenetics. 2026 Aug 31; 27(1). PMID: 42671486. Abstract CommentRecommendBookmarkWatch
