NeuroscienceScience AdvancesPeer-reviewed
AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons
Connor J. Maltby, Amy Krans, Samantha Grudzien…·Peter K. Todd
This study shows that AAGGG repeat expansions cause synaptic defects in CANVAS neurons independently of RFC1, with phenotypes corrected by repeat deletion.
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