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Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort

Kayli C. Davies,Haloom Rafehi, Liam G. Fearnley,Penny Snell,Greta Gillies, Tess A. Field, Gábor M. Halmágyi,Kishore R. Kumar,Kate Pope, Renee Smyth,Susan E. Tomlinson,Stephen Tisch, Chi-Chang Tang,Shaun R. D. Watson, Thomas Wellings, Kathy H. C. Wu,David J. Szmulewicz, Martin B. Delatycki,Melanie Bahlo,Paul J. Lockhart

The Cerebellum(2025)

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Key words
CANVAS,RFC1,Repeat expansion,Cerebellar ataxia,Repeat heterogeneity
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