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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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Podrobná bibliografie
Vydáno v:Diagnostics (Basel)
Hlavní autoři: Barp, Andrea, Mosca, Lorena, Sansone, Valeria Ada
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2021
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8070835/
https://ncbi.nlm.nih.gov/pubmed/33919863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics11040701
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