Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients.
Diagnostics (Basel, Switzerland)
De Palma, Fatima Domenica Elisa FDE; Nunziato, Marcella M; D'Argenio, Valeria V; Savarese, Maria M; Esposito, Gabriella G; Salvatore, Francesco F
Publication Date: 2021-10-15
Variant appearance in text: BRCA2: 2414C>G; Ser805*
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ