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Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides
Variation in RNA splicing (i.e., alternative splicing) plays an important role in many diseases. Variants near 5′ and 3′ splice sites often affect splicing, but the effects of these variants on splicing and disease have not been fully characterized beyond the two “essential” splice nucleotides flank...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028136/ https://www.ncbi.nlm.nih.gov/pubmed/29858273 http://dx.doi.org/10.1101/gr.231902.117 |