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Paper Details

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
Brain
52
2020
(ACAGG)exp, CANVAS, Cerebellar ataxia,, RFC1, RFC1 disease allele, RFC1 repeat, RFC1 repeat expansion motif, RFC1 repeat motif, creatine, fasciculations, gnomAD, intron 2, neurological disease, neuropathy and vestibular areflexia syndrome, patients, pentanucleotide, serum creatine kinase
Author NameAffiliation
Mark R DavisQEII Medical Centre
Ben WeisburdBroad Institute of MIT and Harvard
Ben WeisburdBroad Institute of MIT and Harvard
Henry HouldenUCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery
Nigel G LaingQEII Medical Centre, University of Western Australia
Nigel G LaingHarry Perkins Institute of Medical Research, QEII Medical Centre
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