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Diagnostic NGS for Severe Neuromuscular Disorders Cover

Diagnostic NGS for Severe Neuromuscular Disorders

Open Access
|Dec 2015

Abstract

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.
Language: English
Page range: 82 - 82
Submitted on: Dec 1, 2015
Accepted on: Dec 12, 2015
Published on: Dec 17, 2015
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services

© 2015 Radhika Dhamija, Chelsea Chambers, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.