GeneticsNeurology GeneticsPeer-reviewed
Prevalence of RFC1-Mediated Spinocerebellar Ataxia in a United States Ataxia Cohort
Dona Aboud Syriani, Darice Y. Wong, Sameer Andani…·Brent L. Fogel
The paper evaluates the prevalence of RFC1 and DAB1 repeat expansions in an undiagnosed ataxia cohort, finding biallelic RFC1 expansions in 2.7% of patients.
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