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Article

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

21 Mar 2025

Abstract excerpt

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) using SpliceAI and sequencing data from diverse cohorts, including 551 early-onset sporadic dissection cases and 437 HTAD...

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PMID: 40118890
DOI: 10.1038/s41525-025-00472-w

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