Article

Aberrant recursive splicing in a human disease locus

2025-08-15

Abstract excerpt

Recursive splice sites are rare motifs postulated to facilitate splicing across massive introns and shape isoform diversity, especially for long, brain-expressed genes. The necessity of this unique mechanism remains unsubstantiated, as does the role of recursive splicing (RS) in human disease. From analyses of rare copy number variants (CNVs) from almost one million individuals, we previously identified large, het...

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Literature Corpus work: 222f0b02-126e-5316-8e3e-e7ed14ded3b8
DOI: 10.1101/2025.08.14.666599

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