Article

Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve

2023-10-24

Abstract excerpt

Bicuspid aortic valve (BAV), the most common congenital heart defect, is a major cause of aortic valve disease requiring valve interventions and thoracic aortic aneurysms predisposing to acute aortic dissections. The spectrum of BAV ranges from early onset valve and aortic complications (EBAV) to sporadic late onset disease. Rare genomic copy number variants (CNVs) have previously been implicated in the developmen...

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Literature Corpus work: c0205a38-6363-5d89-8410-dafad3ff1b9f
DOI: 10.1101/2023.10.23.23297397

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