Article

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

2023-02-07

Abstract excerpt

<h4>Objectives</h4> Transcript sequencing of patient derived samples has been shown to improve the diagnostic yield for solving cases of likely Mendelian disorders, yet the added benefit of full-length long-read transcript sequencing is largely unexplored. <h4>Methods</h4> We applied short-read and full-length isoform cDNA sequencing and mitochondrial functional studies to a patient-derived fibroblast cell line...

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Literature Corpus work: 73a010c2-1b30-5ce8-a4a1-3b0b4e223988
DOI: 10.1101/2023.02.07.526487

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