Article

Variations in the poly-histidine repeat motif of HOXA1 predispose individuals to bicuspid aortic valve

2022-03-10

Abstract excerpt

<title>Abstract</title> <p>Bicuspid aortic valve (BAV) is the most common cardiovascular malformation (0.5–1.2% of the population) and is often associated with premature aortic valve stenosis or insufficiency, aortic aneurysm and other congenital cardiac heart defects. Although highly heritable, few causal mutations have been identified in BAV patients. Here, we report the association of novel variants in the tra...

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Literature Corpus work: f1c33ab6-e08e-5ffc-8be1-2e91f7944f56
DOI: 10.21203/rs.3.rs-1415862/v1

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