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Article

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides.

Genome research - 1 Jul 2018

Zhang Sidi, Samocha Kaitlin E, Rivas Manuel A, Karczewski Konrad J, Daly Emma, Schmandt Ben, Neale Benjamin M, MacArthur Daniel G, Daly Mark J

Abstract excerpt

Variation in RNA splicing (i.e., alternative splicing) plays an important role in many diseases. Variants near 5' and 3' splice sites often affect splicing, but the effects of these variants on splicing and disease have not been fully characterized beyond the two "essential" splice nucleotides flanking each exon. Here we provide quantitative measurements of tolerance to mutational disruptions by position and...

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Identifiers

PMID: 29858273
DOI: 10.1101/gr.231902.117
PMCID: PMC6028136

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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