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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
Главные авторы: Babić Božović, Ivana, Maver, Aleš, Leonardis, Lea, Meznaric, Marija, Osredkar, Damjan, Peterlin, Borut
Формат: Artigo
Язык:Inglês
Опубликовано: Public Library of Science 2021
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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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