ArticleMolecular genetics & genomic medicine2021

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.

Bertrand Chesneau et al.PubMed ↗Full text ↗Publisher ↗

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