Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
<h4>Background</h4>Our aim was to present the experience of systematic, routine use of next generation sequencing (NGS) in clinical diagnostics of myopathies.<h4>Methods</h4>Exome sequencing was performed on patients with high risk for inherited myopathy, which were selected...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2021-01-01
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| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0252953 |