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  1. ...material is available for this article.] Alternative splicing is an evolutionarily conserved mechanism that increases transcriptomic and proteomic diversity by allowing the generation of multiple mRNA products from a single gene. It is highly prevalent as >95%of humanmultiexonic genes undergo alternative...
  2. ...of the splicing impact of a complete set of RNA 6-mer sequences by deep sequencing successfully spliced transcripts. All 4096 6-mers were substituted at five positions within two different internal exons in a 3-exon minigene, and millions of successfully spliced transcripts were sequenced after transfection...
  3. ...different inherited disease mutations in 67 different disease genes. Taken together, we find that ∼25% (7154/27,681) of known mis-sense and nonsense disease-causing mutations alter functional splicing signals within exons, suggesting a much more widespread role for aberrant mRNA processing in causing human...
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