Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges (2023)

First Author: Efthymiou 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

No abstract provided

Type: Journal Article/Review

Parent Publication: Biomolecules

Issue: 11