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Adaptive long-read sequencing reveals GGC repeat expansion in ZFHX3 associated with spinocerebellar ataxia type 4

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Authors: 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, Genomics England Research Consortium, John Hardy, James Polke, Andrew B Singleton, Cornelis Blauwendraat, Katherine D. Matthews, Arianna Tucci, Ying-Hui Fu, Henry Houlden, Mina Ryten, Louis J. Ptacek
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  • Published on: January 10 2024
  • Source: Movement Disorders

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