Abstract 467: Identification of Novel Pathogenic Mutations in Non-Canonical RNA Splice Sites in Congenital Heart Disease
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DOI: 10.1161/res.125.suppl_1.467
Abstract: Rationale: Congenital heart disease (CHD) occurs in about 1 in 100 live births, yet known genetic causes explain less than 20% of CHD cases. While variants that cause frameshift, nonsense, start/stop site gain or loss,… read more here.
Keywords: splice; rna; rna splice; non canonical ... See more keywords