Article

Tackling Non-Canonical Splicing in Arrhythmogenic Cardiomyopathy to Reduce the Uncertain Significance Variants Burden

2026-04-02

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> . Splice-altering variants (SAVs), particularly those outside canonical splice sites, are an underappreciated contributor to inherited cardiovascular diseases. In arrhythmogenic cardiomyopathy (ACM), these variants frequently remain classified as of uncertain significance (VUS) due to limited predictive power and lack of transcript-level evidence, constraining...

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Literature Corpus work: 4ae86516-05b9-58c8-a212-534d23c34ea4
DOI: 10.21203/rs.3.rs-9022128/v1

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