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Article

Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders

10 Mar 2020

Abstract excerpt

Objective Molecular genetic testing for hereditary neuromuscular disorders is increasingly used to identify disease subtypes, determine prevalence, and inform management and prognosis, and although many small disease-specific studies have demonstrated the utility of genetic testing, comprehensive data sets are better positioned to assess the complexity of genetic analysis. Methods Using high depth-of-coverage...

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PMID: 32337338
DOI: 10.1212/nxg.0000000000000412

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