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Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders

Neuromuscular disorders (NMDs) comprise a heterogeneous group of disorders that affect about one in every thousand individuals worldwide. The vast majority of NMDs has a genetic cause, with about 600 genes already identified. Application of genetic testing in NMDs can be useful for several reasons:...

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Principais autores: Andrea Barp, Lorena Mosca, Valeria Ada Sansone
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2021-04-01
Serier:Diagnostics
Fag:
neuromuscular disease
genetic testing
next generation sequencing
whole exome sequencing
Online adgang:https://www.mdpi.com/2075-4418/11/4/701
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