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Disrupted minor intron splicing is prevalent in Mendelian disorders

BACKGROUND: Splicing is crucial for proper gene expression, and is predominately executed by the major spliceosome. Conversely, 722 introns in 699 human minor intron‐containing genes (MIGs) are spliced by the minor spliceosome. Splicing of these minor introns is disrupted in diseases caused by patho...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Olthof, Anouk M., Rasmussen, Jeffrey S., Campeau, Philippe M., Kanadia, Rahul N.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7507305/
https://ncbi.nlm.nih.gov/pubmed/32573973
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1374
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