Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing

Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing

Abstract Individuals with heritable thoracic aortic disease (HTAD) face a high risk of deadly aortic dissections, but genetic testing identifies causative variants in only a minority of cases. We explored the contribution of non-canonical splice variants (NCVAS) to thoracic aortic disease (TAD) usin...

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Main Authors: David R. Murdock, Dong-chuan Guo, John S. DePaolo, Ulrike Schwarze, Xue-yan Duan, Alana C. Cecchi, Isabella C. Marin, YingYing Tang, Jessica X. Chong, Michael J. Bamshad, Kathleen A. Leppig, Peter H. Byers, Scott M. Damrauer, Dianna M. Milewicz
Format: Article
Language:English
Published: Nature Portfolio 2025-03-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00472-w
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