Genetic & Genomic MedicinePLoS ONEPeer-reviewed
Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve
Steven Grant Carlisle, Hasan Albasha, Héctor I. Michelena…·Siddharth K. Prakash
The paper identifies rare genomic copy number variants (CNVs) in early-onset bicuspid aortic valve (EBAV) cases, implicating new candidate genes like GATA4 and DSCAM in BAV pathogenesis.
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