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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...
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Publicado no: | Genome Res |
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Main Authors: | , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Cold Spring Harbor Laboratory Press
2018
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6028136/ https://ncbi.nlm.nih.gov/pubmed/29858273 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.231902.117 |
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