@ben-weisburd.bsky.social
It was great to be able to contribute the EP400 finding to this preprint. Together with @ginaravenscroft.bsky.social and @cfolland.bsky.social we flagged a novel CAG repeat locus in the EP400 gene as a likely (though extremely rare) cause of spinocerebellar ataxia when expanded to ≥55 repeats. [1/N]
Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity https://www.biorxiv.org/content/10.1101/2025.01.06.631535v1
January 10, 2025 at 2:37 AM
It was great to be able to contribute the EP400 finding to this preprint. Together with @ginaravenscroft.bsky.social and @cfolland.bsky.social we flagged a novel CAG repeat locus in the EP400 gene as a likely (though extremely rare) cause of spinocerebellar ataxia when expanded to ≥55 repeats. [1/N]