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Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

23 Feb 2019

Abstract excerpt

BACKGROUND: Neuromuscular disorders (NMDs) are clinically and genetically heterogeneous. Accurate molecular genetic diagnosis can improve clinical management, provides appropriate genetic counseling and testing of relatives, and allows potential therapeutic trials. OBJECTIVE: To establish the clinical utility of panel-based whole exome sequencing (WES) in NMDs in a population with children and adults with various...

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PMID: 31127727
DOI: 10.3233/jnd-180376

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