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**Manuscript:** Multi-omics analysis identifies a novel *VMA21* gene variant that dysregulates RNA splicing causing rare X-linked myopathy with excessive autophagy
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**Manuscript:** Multi-omics analysis identifies a novel *VMA21* gene variant that dysregulates RNA splicing causing rare
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X-linked myopathy with excessive autophagy
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X-linked myopathy with excessive autophagy (XMEA) is caused by loss-of-function (LoF) pathogenic variants in the *VMA21*
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gene on the X-chromosome. XMEA patients develop a progressive muscle weakness caused by an impaired autophagy process
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## Analysis code in the respective folders
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The scripts written as the part of this study are listed below in their respective folders. Please refer to them for the
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files (gene annotation, etc.) necessary to run them successfully.
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- **Splicing visualization via sashimi plot**
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- [ggsashimi_analysis](./src/ggsashimi_analysis)
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- **Differential gene expression analysis**

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