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In or Out? New Insights on Exon Recognition through Splice-Site Interdependency
Noncanonical splice-site mutations are an important cause of inherited diseases. Based on in vitro and stem-cell-based studies, some splice-site variants show a stronger splice defect than expected based on their predicted effects, suggesting that other sequence motifs influence the outcome. We inve...
Autores principales: | Khan, Mubeen, S. Cornelis, Stéphanie, Sangermano, Riccardo, J.M. Post, Iris, Janssen Groesbeek, Amber, Amsu, Jan, Gilissen, Christian, Garanto, Alejandro, W.J. Collin, Rob, P.M. Cremers, Frans |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7177576/ https://www.ncbi.nlm.nih.gov/pubmed/32225107 http://dx.doi.org/10.3390/ijms21072300 |
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