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

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

Abstract 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 updat...

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Bibliographic Details
Main Authors: Jihye Park, Hyun Mi Oh, Hye Jung Park, Ah‐Ra Cho, Dong‐Woo Lee, Ja‐Hyun Jang, Dae‐Hyun Jang
Format: Article
Language:English
Published: Wiley 2019-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Neuromuscular disorder
Next‐generation sequencing
Targeted multigene panel sequencing
Whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.947

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