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.
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Pediatric Neurology Briefs Publishers
2015-12-01
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| Series: | Pediatric Neurology Briefs |
| Subjects: | |
| Online Access: | https://www.pediatricneurologybriefs.com/articles/707 |