Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing
胸主动脉夹层病例和马凡综合征患者中存在非典型剪接变异,但基因检测结果为阴性
期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-025-00472-w
Murdock, David R; Guo, Dong-Chuan; DePaolo, John S; Schwarze, Ulrike; Duan, Xue-Yan; Cecchi, Alana C; Marin, Isabella C; Tang, YingYing; Chong, Jessica X; Bamshad, Michael J; Leppig, Kathleen A; Byers, Peter H; Damrauer, Scott M; Milewicz, Dianna M