Whole-genome and long-read sequencing identify a novel mechanism in RFC1 resulting in CANVAS syndrome
Open Access Publication
Rights and Permissions
King KA, Wegner DJ, Bucelli RC, Shapiro J, Paul AJ, Dickson PI, Wambach JA; Undiagnosed Disease Network (UDN). Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome. Neurol Genet. 2022 Nov 1;8(6):e200036. doi: 10.1212/NXG.0000000000200036. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal
King, Katherine Abell; Wegner, Daniel J.; Bucelli, Robert C.; Shapiro, Jessica; Paul, Alexander J.; Dickson, Patricia I.; Wambach, Jennifer A.; and Undiagnosed Disease Network, "Whole-genome and long-read sequencing identify a novel mechanism in RFC1 resulting in CANVAS syndrome." Neurology: Genetics. 8, 6. e200036 (2022).
Supplemental material is available for this article at publisher site.