Article

Exon Proteogenomic Abundance Predicts Advanced Heart Failure in Titin Cardiomyopathy

2025-11-04

Abstract excerpt

<h4>Background</h4> Truncating variants in the titin ( TTN ) gene (TTN-TV) are the most common genetic cause of dilated cardiomyopathy (DCM) and confer a significant risk of progression to advanced heart failure (AHF). Disease penetrance of TTN-TV has been linked to the level of expression of the exon containing the TTN-TV, quantified using the percent spliced in (PSI). We hypothesized that recalculating PSI usi...

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Literature Corpus work: 533bed44-36e6-5582-b873-4324f5918856
DOI: 10.1101/2025.11.02.25338804

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