Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency
结构重排是SETBP1单倍体功能不全的常见致病机制
期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-024-00600-0
Alesi, V; Genovese, S; Roberti, M C; Sallicandro, E; Di Tommaso, S; Loddo, S; Orlando, V; Pompili, D; Calacci, C; Mei, V; Pisaneschi, E; Faggiano, M V; Morgia, A; Mammì, C; Astrea, G; Battini, R; Priolo, M; Dentici, M L; Milone, R; Novelli, A