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Article

Long-read sequencing improves diagnostic rate in neuromuscular disorders.

1 Jan 2023

Abstract excerpt

, facilitating the diagnosis of Facioscapulohumeral muscular dystrophy (FSHD). We review recent studies that have used either ONT or PacBio SMRT sequencing methods and discuss different types of variants that have been detected using these approaches in individuals with neuromuscular disorders.

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Identifiers

PMID: 38406378
DOI: 10.36185/2532-1900-394

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