Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29.
Nat Genet. 2019.
PMID: 30926972
Free PMC article.