Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism
针对X连锁肌张力障碍帕金森病中由致命性非编码结构变异引起的替代剪接进行治疗靶向治疗
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doi:10.1101/2025.10.10.25336355
Yadav, Rachita; Vaine, Christine A; Domingo, Aloysius; Reed, Siddharth; Shah, Shivangi; Gao, Dadi; O'Keefe, Kathryn; Salani, Monica; Lemanski, John; Bhavsar, Riya; McMahon, Moira A; Jackson, Michaela; Courtney, Margo; Murcar, Micaela G; Fernandez-Cerado, Cara; Legarda, Gierold Paul A; Sy, Michelle; Velasco-Andrada, M Salvie; Muñoz, Edwin L; Ang, Mark Angelo C; Diesta, Cid Czarina E; Erdin, Serkan; Penney, Ellen B; Ozelius, Laurie; Sharma, Nutan; Bennett, C Frank; Bragg, D Cristopher; Talkowski, Michael E