Exon identity crisis: disease-causing mutations that disrupt the splicing code |
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| Authors: | Timothy Sterne-Weiler Jeremy R Sanford |
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| Affiliation: | 1.Banting and Best Department of Medical Research, University of Toronto, 160 College St, Toronto, ON M5S 3E1, Canada;2.Department of Molecular, Cellular and Developmental Biology, University of California Santa Cruz, 1156 High Street, Santa Cruz, CA 95060, USA |
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| 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. |
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