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Identifi cation of pathogenic variants in monogenic diseases is an important aspect of diagnosis, genetic counseling, and prediction of disease severity. Pathogenic mechanisms involved include changes in gene expression, RNA processing, and protein translation. Variants affecting pre-mRNA splicing are diffi cult to predict due to the complex mechanism of splicing regulation. A generic approach to systematically detect and characterize the effects of sequence variants on splicing would improve current diagnostic practice.

Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach