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Types of splicing mutations that affect structure and/or abundance of resulting transcripts The diagram illustrates potential outcomes of mRNA splicing mutations predicted by the Shannon pipeline. Variation within splice donor and/or acceptor sites may lead to altered splicing events such as exon skipping (◊), exonic (□) or intronic (△) cryptic site use, and/or reduction in the abundance of normally spliced mRNA forms, termed leaky mutations (○).
