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RFC1 Nonsense and Frameshift Variants Cause CANVAS: Clues for an Unsolved Pathophysiology.

Mehdi Benkirane,Dylan Da Cunha,Cecilia Marelli,Lise Larrieu,Mathilde Renaud,Jessica Varilh,Morgane Pointaux,David Baux,Olivier Ardouin, Charles Vangoethem,Magali Taulan, Benjamin Daumas Duport,Anne Bergougnoux,Anne Gaelle Corbille,Mireille Cossee,Raul Juntas Morales,Sylvie Tuffery-Giraud,Michel Koenig,Bertrand Isidor,Marie Claire Vincent

Brain（2022）

Cited 25|Views34
Key words
CANVAS,RFC1,cerebellar ataxia,truncating variant,repeat expansion
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