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Genome Biol. 2014 Jan 23;15(1):201. doi: 10.1186/gb4150.

Exon identity crisis: disease-causing mutations that disrupt the splicing code.

Abstract

Cis-acting RNA elements control the accurate expression of human multi-exon protein coding genes. Single nucleotide variants altering the fidelity of this regulatory code and, consequently, pre-mRNA splicing are expected to contribute to the etiology of numerous human diseases.

PMID:
24456648
PMCID:
PMC4053859
DOI:
10.1186/gb4150
[Indexed for MEDLINE]
Free PMC Article
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