Article

Analysis of Premature Termination Codons Predicted to Escape Nonsense Mediated Decay Identifies Novel Genes, Pathways, and Networks Contributing to an Oligogenic Etiology of Congenital Heart Disease

2025-08-07

Abstract excerpt

<h4>Background</h4> A large fraction of clinically relevant pathogenic genomic variation consists of premature termination codons ( PTC). While PTCs can trigger nonsense mediated mRNA decay ( NMDtrig ) causing loss of function ( LOF ), those near the end of transcripts can escape NMD ( NMDesc ), allowing expression of truncated proteins. As NMDesc PTCs are not well studied, and can lead to possible gain of functi...

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Literature Corpus work: 688713aa-da9d-587a-be6b-91c00f1f605f
DOI: 10.1101/2025.08.04.25332980

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Analysis of Premature Termination Codons Predicted to Escape Nonsense Mediated Decay Identifies Novel Genes, Pathways, and Networks Contributing to an Oligogenic Etiology of Congenital Heart DiseaseDOI 10.1101/2025.08.04.25332980Read

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