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. 2023 Aug 10;13:13042. doi: 10.1038/s41598-023-40107-7

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© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Differentially spliced exon (DSE) analysis by BRIE2 software. (A) Volcano plot for DSEs between LBSL and control cells. (B) Violin plot on DARS2 (Exon 3) for estimated PSI between LBSL and controls cells in each cell type. (C) Sashimi plot of DARS2 (Exons 1–8) via merged BAM files, showing the “leaky” nature of mutations in Introns 2 and 5.