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Copy number variation analysis increases the diagnostic yield in muscle diseases
OBJECTIVE: Copy number variants (CNVs) were analyzed from next-generation sequencing data, with the aim of improving diagnostic yield in skeletal muscle disorder cases. METHODS: Four publicly available bioinformatic analytic tools were used to analyze CNVs from sequencing data from patients with mus...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Neurol Genet |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Wolters Kluwer
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6140371/ https://ncbi.nlm.nih.gov/pubmed/30238059 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000204 |
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