SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts. - Cook SL; Stout C; Kirkeby L; Vidal-Folch N; Oglesbee D; Hasadsri L; Selcen D; Milone M; Anderson D; Staff NP (Frontiers in genetics, 2024)