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Hannah K. Shorrock

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Review Open access Aug 2026

Alternative splicing dysregulation in CAG repeat expansion diseases.

Alternative splicing of RNA is a highly regulated process that increases the complexity of gene expression, with disruption of splicing leading to significant disruption of cellular function and, ultimately, disease. This spliceopathy is exemplified by myotonic dystrophy type 1, a CTG repeat expansion disease, where dy...

Asmer Aliyeva, J. D. Cleary, Hannah K. Shorrock et al. · 0 citations

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