Article

A comprehensive atlas of fetal splicing patterns in the brain of adult myotonic dystrophy type 1 patients

2021-10-01

Abstract excerpt

<h4>ABSTRACT</h4> In patients with myotonic dystrophy type 1 (DM1), dysregulation of RNA-binding proteins like MBNL and CELF1 leads to alternative splicing of exons and is thought to induce a return to fetal splicing patterns in adult tissues, including the central nervous system (CNS). To comprehensively evaluate this, we created an atlas of developmentally regulated splicing patterns in the frontal cortex of he...

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Literature Corpus work: 0efa3ecc-a99c-5055-9538-29da59350aba
DOI: 10.1101/2021.10.01.462715

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