GeneticsFrontiers in GeneticsPeer-reviewed
Investigation of the pathogenic RFC1 repeat expansion in a Canadian and a Brazilian ataxia cohort: identification of novel conformations
Fulya Akçimen, Jay P. Ross, Cynthia V. Bourassa…·Guy Armand Rouleau
The paper investigates RFC1 repeat expansions in ataxia cohorts, identifying novel repeat conformations and their potential pathogenicity.
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