Article

Pathogenicity Assessment of a Bicuspid Aortic Valve–Associated <i>ELASTIN</i> Variant Using a Zebrafish Model

2026-05-12

Abstract excerpt

Bicuspid aortic valve (BAV) is one of the most common congenital heart defects but its genetic basis remains incompletely defined. Extracellular matrix components play key roles in outflow tract (OFT) and valve development, but their contribution to BAV is not fully established. Following the analysis of a cohort of BAV patients, we identified a family harbouring a rare human ELASTIN ( ELN) variant (p.Gln691X)....

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Literature Corpus work: f68a966d-0c02-50ed-819c-5149230b4466
DOI: 10.64898/2026.05.05.26350845

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