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Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients

BACKGROUND: Multigene panel sequencing (MGPS) is the first‐line option in diagnostic testing for genetically heterogeneous but clinically similar conditions, such as neuromuscular disorders (NMDs). In this study, we aimed to assess the utility of comprehensive NMD MGPS and the need for updated panel...

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Detalles Bibliográficos
Autores principales:	Park, Jihye, Oh, Hyun Mi, Park, Hye Jung, Cho, Ah‐Ra, Lee, Dong‐Woo, Jang, Ja‐Hyun, Jang, Dae‐Hyun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785438/ https://www.ncbi.nlm.nih.gov/pubmed/31475473 http://dx.doi.org/10.1002/mgg3.947

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