loading . . . Comprehensive phenotyping of RFC1-related disorder: integrating electrophysiological, brain imaging, and otoneurological data in deep phenotyping - PubMed The syndrome defined by cerebellar ataxia, neuropathy, and vestibular areflexia (CANVAS) has been previously described as a cause of late-onset ataxia. With the discovery of biallelic expansion in the replication factor C subunit 1 (<i>RFC1</i>) gene as its underlying genetic cause, this syndrome an … https://pubmed.ncbi.nlm.nih.gov/41145152/
