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

1 Sept 2019

Abstract excerpt

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 panels. METHODS: All patients were analyzed by either of two versions of the NMD MGPS and by chromosomal microarray and...

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PMID: 31475473
DOI: 10.1002/mgg3.947

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