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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

14 Jul 2023

Abstract excerpt

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease, usually caused by biallelic AAGGG repeat expansions in RFC1. In this study, we leveraged whole genome sequencing data from nearly 10 000 individuals recruited within the Genomics England sequencing project to investigate the normal and pathogenic variation of the RFC1 repeat. We identified...

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PMID: 37450567
DOI: 10.1093/brain/awad240

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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosisPMID 37450567Read ↗

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