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Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre
BACKGROUND: Our aim was to present the experience of systematic, routine use of next generation sequencing (NGS) in clinical diagnostics of myopathies. METHODS: Exome sequencing was performed on patients with high risk for inherited myopathy, which were selected based on the history of the disease,...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8189452/ https://www.ncbi.nlm.nih.gov/pubmed/34106991 http://dx.doi.org/10.1371/journal.pone.0252953 |