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Article

A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements.

BMC bioinformatics - 12 Jan 2010

Churbanov Alexander, Vorechovský Igor, Hicks Chindo

Abstract excerpt

BACKGROUND: Polymorphic variants and mutations disrupting canonical splicing isoforms are among the leading causes of human hereditary disorders. While there is a substantial evidence of aberrant splicing causing Mendelian diseases, the implication of such events in multi-genic disorders is yet t...

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Identifiers

PMID: 20067640
DOI: 10.1186/1471-2105-11-22
PMCID: PMC3098058

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20067640-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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