A multi-exon RFC1 deletion in a case of CANVAS: expanding the genetic mechanism of disease.

Competing Interests: Declarations. Conflicts of interest: On behalf of all authors, the corresponding author states that there is no conflict of interest. Ethical approval: The Royal Children’s Hospital Human Research Ethics Committee (HREC #28097) and the Walter and Eliza Hall Institute of Medical Research Human Research Ethics Committee (HREC #18/06) approved the study, and all procedures were conducted according to the guidelines of the Declaration of Helsinki. Informed consent was obtained from the participant and clinical details were collected from review of medical records.