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Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review

BACKGROUND: As the application of next generation sequencing (NGS) is moving to earlier stages in the diagnostic pipeline for primary immunodeficiencies (PIDs), re-evaluation of its effectiveness is required. The aim of this study is to systematically review the diagnostic yield of NGS in PIDs. METH...

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Detalles Bibliográficos
Autores principales: Yska, Hemmo A. F., Elsink, Kim, Kuijpers, Taco W., Frederix, Geert W. J., van Gijn, Mariëlle E., van Montfrans, Joris M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6697711/
https://www.ncbi.nlm.nih.gov/pubmed/31250335
http://dx.doi.org/10.1007/s10875-019-00656-x