Published 2015 | Version v1.0.0
Journal Article Open
Diagnostic NGS for Severe Neuromuscular Disorders
Investigators from the University of Western Australia report the diagnostic yield of performing next generation sequencing (NGS; whole exome and targeted capture of 277 neuromuscular genes) in a heterogenous cohort of patients with neuromuscular disorders (NMD) presenting at or before birth.
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2015When the item was originally created.