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Article

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death

11 Oct 2023

Abstract excerpt

There is an incomplete understanding of the burden of splice-disrupting variants in definitively associated inherited heart disease genes and whether these genes can amplify from blood RNA to support functional confirmation of splicing outcomes. We performed burden testing of rare splice-disrupting variants in people with inherited heart disease and sudden unexplained death compared to 125,748 population...

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PMID: 37821546
DOI: 10.1038/s41525-023-00373-w

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