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Exon identity crisis: disease-causing mutations that disrupt the splicing code
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.
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4053859/ https://www.ncbi.nlm.nih.gov/pubmed/24456648 http://dx.doi.org/10.1186/gb4150 |