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Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich’s Ataxia-GAA Repeats

Joohyun Park,Claudia Dufke, Zofia Fleszar, Michael Schlotterbek, Elena Buena-Atienza, Lara G Stühn,Caspar Gross,Marc Sturm,Stephan Ossowski,Ludger Schöls,Olaf Riess,Tobias B Haack

International journal of molecular sciences（2025）

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Key words
long-read sequencing,FRDA,Friedreich’s ataxia,Oxford Nanopore Technologies,repeat expansion
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