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Updated: Oct 5, 2025

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism

Akatsuki Kubota1, Hiroyuki Ishiura1, Kristine Joyce Linay Porto2

  • 1Department of Neurology, The University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.

Neuromuscular Disorders : NMD
|January 30, 2022
PubMed

Keywords:
Complex rearrangementsDroplet digital PCRDystrophinopathyLong-read sequencingSomatic mosaicism

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