Association of biallelic RFC1 expansion with early‐onset Parkinson's disease
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DOI: 10.1111/ene.15717
Abstract: The biallelic repeat expansion (AAGGG)exp in the replication factor C subunit 1 gene (RFC1) is a frequent cause of cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) as well as late‐onset ataxia. The clinical spectrum… read more here.
Keywords: rfc1; association biallelic; disease; parkinson disease ... See more keywords