Neurology Journal, 05 Feb 2023 This study by Ronco and colleagues reports the first cases of RFC1 CANVAS associated with truncating variants in the RFC1 gene.
Neurology Journal, 06 Nov 2022 Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome: bit.ly/3fud5lX