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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Detalles Bibliográficos
Autores principales: Babić Božović, Ivana, Maver, Aleš, Leonardis, Lea, Meznaric, Marija, Osredkar, Damjan, Peterlin, Borut
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
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

Internet

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

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