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Contribution of Copy Number Variation to Down Syndrome-associated Atrioventricular Septal Defects
PURPOSE: The goal of this study was to identify the contribution of large copy number variants (CNV) to Down syndrome (DS) associated atrioventricular septal defects (AVSD), whose risk in the trisomic population is 2000-fold more compared to general disomic population. METHODS: Genome-wide CNV analy...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Genet Med |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2014
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4408203/ https://ncbi.nlm.nih.gov/pubmed/25341113 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.144 |
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