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Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4

Zhongbo Chen,Emil K. Gustavsson,Hannah Macpherson, Claire Anderson, Chris Clarkson,Clarissa Rocca, Eleanor Self,Pilar Alvarez Jerez,Annarita Scardamaglia,David Pellerin,Kylie Montgomery, Jasmaine Lee,Delia Gagliardi, Huihui Luo,John Hardy,James Polke,Andrew B. Singleton,Cornelis Blauwendraat,Katherine D. Mathews,Arianna Tucci,Ying-Hui Fu,Henry Houlden,Mina Ryten,Louis J. Ptacek

MOVEMENT DISORDERS（2024）

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Key words
ataxia,long-read sequencing,repeat expansion disorder
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