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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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Detalhes bibliográficos
Publicado no:Genome Res
Main Authors: Zhang, Sidi, Samocha, Kaitlin E., Rivas, Manuel A., Karczewski, Konrad J., Daly, Emma, Schmandt, Ben, Neale, Benjamin M., MacArthur, Daniel G., Daly, Mark J.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2018
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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