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...

ver descrição completa

Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Nature Portfolio 2025-03-01
coleção:	npj Genomic Medicine
Acesso em linha:	https://doi.org/10.1038/s41525-025-00472-w
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!