Article

A predictive framework for stop-loss variants with C-terminal extensions

2025-09-04

Abstract excerpt

Stop codons dictate translation termination, and variants occurring at these sites can result in stop-loss variants, leading to C-terminal extensions with potentially significant functional consequences. Despite their clinical relevance, existing prediction tools—primarily developed for missense variants—lack sufficient accuracy for assessing stop-loss variants, mainly due to their insufficiency in accounting for...

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Literature Corpus work: d6d6ba98-dc45-5384-8582-31f63283d0d6
DOI: 10.1101/2025.09.01.673407

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