Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions (2023)

First Author: Facchini S

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/10.3390/biom13101546

Publication URI: http://dx.doi.org/10.3390/biom13101546

Type: Journal Article/Review

Parent Publication: Biomolecules

Issue: 10