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Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease (2024)

First Author: Record C

Attributed to: The AAGGG repeat expansion in RFC1 associated with late-onset ataxia and sensory neuropathy: from genetic cause to defining the functional mechanism funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1093/brain/awae064

Publication URI: http://dx.doi.org/10.1093/brain/awae064

Type: Journal Article/Review

Parent Publication: Brain

Issue: 9