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. 2019 Jun 13;105(1):108–121. doi: 10.1016/j.ajhg.2019.05.011

Figure 4.

Figure 4

RNA Sequencing from Fibroblasts Reveals Skipping of Exon 9 of RINT1

Sashimi plot representing RNA sequencing reads supporting splicing junctions of exons 8, 9, and 10 of RINT1 (GenBank: NM_021930) from fibroblast cultures from proband 1 and a control (±puromycin). The junction reads from proband 1 reveal skipping of exon 9 with recovery of additional reads supporting exon 9 skipping with puromycin treatment. No exon 9 skipping was observed in the control.