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Article

Systematic evaluation of the effect of common SNPs on pre-mRNA splicing.

Human mutation - 1 Apr 2009

ElSharawy Abdou, Hundrieser Bernd, Brosch Mario, Wittig Michael, Huse Klaus, Platzer Matthias, Becker Albert, Simon Matthias, Rosenstiel Philip, Schreiber Stefan, Krawczak Michael, Hampe Jochen

Abstract excerpt

The evolutionary and biomedical importance of differential mRNA splicing is well established. Numerous studies have assessed patterns of differential splicing in different genes and correlated these patterns to the genotypes for adjacent single-nucleotide polymorphisms (SNPs). Here, we have chosen a reverse approach and screened dbSNP for common SNPs at either canonical splice sites or exonic splice enhancers...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19191320
DOI: 10.1002/humu.20906

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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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