Article

Context-dependent effects of mutations on complex splicing decisions

2025-03-11

Abstract excerpt

Alternative pre-mRNA splicing is an essential step in human gene regulation, and mutation-induced aberrant splicing is frequently found in diseases and therapy resistance. Splicing regulation is highly dependent on sequence and cellular context, posing a challenge to predict outcomes of splicing-related disease mutations. Here, we use kinetic modeling to derive the underlying quantitative principles, describing sp...

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Literature Corpus work: a1fbda94-c954-59b6-84bf-62ec02a3f0b7
DOI: 10.1101/2025.03.06.641829

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