Rare Deleterious Variants of NOTCH1, GATA4, SMAD6, and ROBO4 Are Enriched in BAV with Early Onset Complications but Not in BAV with Heritable Thoracic Aortic Disease.
Molecular genetics & genomic medicine（2020）
关键词
bicuspid aortic valve,thoracic aortic aneurysm,whole exome sequence
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