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Article

Rules and tools to predict the splicing effects of exonic and intronic mutations.

Wiley interdisciplinary reviews. RNA - 1 Jan 2018

Ohno Kinji, Takeda Jun-Ichi, Masuda Akio

Abstract excerpt

Development of next generation sequencing technologies has enabled detection of extensive arrays of germline and somatic single nucleotide variations (SNVs) in human diseases. SNVs affecting intronic GT-AG dinucleotides invariably compromise pre-mRNA splicing. Most exonic SNVs introduce missense/nonsense codons, but some affect auxiliary splicing cis-elements or generate cryptic GT-AG dinucleotides. Similarly,...

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PMID: 28949076
DOI: 10.1002/wrna.1451

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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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