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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

PubMed Identifier: 37892228

Publication URI: http://europepmc.org/abstract/MED/37892228

Type: Journal Article/Review

Volume: 13

Parent Publication: Biomolecules

Issue: 10

ISSN: 2218-273X