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. 2023 Feb 6;55(2):324–332. doi: 10.1038/s41588-022-01293-8

Extended Data Fig. 2. Top-10* mis-splicing events seen in 300K-RNA* for our cohort of 88 variants, filled if they were seen in RNA studies.

Extended Data Fig. 2

Gray fill: multiple of 3 (maintains frame). Black fill: not a multiple of 3 (disrupts frame). No fill: Event not seen in RNA studies. * = skipping one or two exons and cryptic activation within 600 nt of the annotated splice-site.

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