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

Kayli C DaviesLiam G FearnleyPenny SnellDavid BourkeStuart MossmanKaren KyneColina McKeownMartin B DelatyckiMelanie BahloPaul J Lockhart
Published in: Journal of neurology (2024)
Keyphrases
  • genome wide
  • copy number
  • dna methylation
  • gene expression