Varaico: Literature-Extracted Genetic Variants

Gene:RFC1
Variant:p.R383*
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RFC1

NM_002913.5:p.R383*

Associated Papers

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

Davies KC et al.

Journal of Neurology, 2024

RFC1: Motifs and phenotypes.

Delforge V et al.

Revue Neurologique, 2024

Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome.

King KA et al.

Neurology. Genetics, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."