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Article

Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy

31 Aug 2021

Abstract excerpt

Background: Heterozygous TTN truncating variants cause 10% to 20% of idiopathic dilated cardiomyopathy (DCM). Although variants which disrupt canonical splice signals (ie, invariant dinucleotide of the splice donor site, invariant dinucleotide of the splice acceptor site) at exon-intron junctions are readily recognized as TTN truncating variants, the effects of other nearby sequence variations on splicing and...

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PMID: 34461741
DOI: 10.1161/circgen.121.003389

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