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Analysis of published pathogenic AG-gain variants. (A) Search of the HGMD database for pathogenic AG-gain variants in three zones and literature review of each associated paper to obtain experimental missplicing evidence. (B) Misspliced outcomes from the reported pathogenic AG-gain variants. (C) The distance distribution from pathogenic AG-gain variants to BP (Left) and to ACC (Right) in zone 1. (D) The distribution of AGAIN scores of pathogenic AG-gain variants.
