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Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS

1 Aug 2015

Abstract excerpt

OBJECTIVE: To establish and evaluate the effectiveness of a comprehensive next-generation sequencing (NGS) approach to simultaneously analyze all genes known to be responsible for the most clinically and genetically heterogeneous neuromuscular diseases (NMDs) involving spinal motoneurons, neuromuscular junctions, nerves, and muscles. METHODS: All coding exons and at least 20 bp of flanking intronic sequences of...

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PMID: 27066551
DOI: 10.1212/nxg.0000000000000015

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