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AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons.

Connor J MaltbyAmy KransSamantha J GrudzienYomira PalaciosJessica MuiñosAndrea SuárezMelissa AsherVikram KhuranaSami J BarmadaAnke A DijkstraPeter K Todd
Published in: bioRxiv : the preprint server for biology (2023)
Human CANVAS neurons exhibit transcriptional and functional synaptic defects that are corrected by heterozygous repeat deletion but are independent of the gene within which they reside-RFC1.
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