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...
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| Autores principales: | , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Public Library of Science (PLoS)
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/8803262f14874715a98b0e1a2cdd589b |
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