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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,...
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| Опубликовано в: : | PLoS One |
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| Главные авторы: | , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Public Library of Science
2021
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8189452/ https://ncbi.nlm.nih.gov/pubmed/34106991 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0252953 |
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