Article

Next Generation Sequencing Panel as an Effective Approach to Genetic Testing in Patients with a Highly Variable Phenotype of Neuromuscular Disorders

2024-03-28

Abstract excerpt

<title>Abstract</title> <p>Neuromuscular disorders (NMDs) include a wide-range of diseases affecting the peripheral nervous system. The genetic diagnoses are increasingly obtained with using the next generation sequencing (NGS). We applied the custom-design targeted NGS panel including 89 genes, together with genotyping and multiplex ligation-dependent probe amplification (MLPA) to identify a genetic spectrum of...

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Literature Corpus work: 601b1bcc-f032-5a43-99fe-c92d2907507d
DOI: 10.21203/rs.3.rs-4130909/v1

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