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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.
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Pediatric Neurology Briefs Publishers
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747264/ https://www.ncbi.nlm.nih.gov/pubmed/26933539 http://dx.doi.org/10.15844/pedneurbriefs-29-11-1 |