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Article

Comprehensive characterisation of intronic mis-splicing mutations in human cancers.

Oncogene - 1 Feb 2021

Jung Hyunchul, Lee Kang Seon, Choi Jung Kyoon

Abstract excerpt

Previous studies studying mis-splicing mutations were based on exome data and thus our current knowledge is largely limited to exons and the canonical splice sites. To comprehensively characterise intronic mis-splicing mutations, we analysed 1134 pan-cancer whole genomes and transcriptomes together with 3022 normal control samples. The ratio-based splicing analysis resulted in 678 somatic intronic mutations, with...

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Identifiers

PMID: 33420369
DOI: 10.1038/s41388-020-01614-3
PMCID: PMC7892346

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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