Article

Beyond Coding Variants: RNA-Level Mechanisms in Human Disease and Precision Therapeutics

2026-05-11

Abstract excerpt

RNA-level regulation provides a therapeutically actionable bridge between genomic variation and disease mechanism. Although clinical genomics has traditionally prioritised variants that alter protein-coding sequence, many pathogenic variants act by disrupting RNA processing, stability, localisation, translation, editing, or surveillance. These mechanisms determine whether a transcript is correctly spliced, degrade...

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Literature Corpus work: d1fbe676-40d5-5db4-bd3f-aaf959cd60f9
DOI: 10.20944/preprints202605.0662.v1

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