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Exon identity crisis: disease-causing mutations that disrupt the splicing code.
Published Web Location
https://doi.org/10.1186/gb4150Abstract
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.
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