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An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome
DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11.2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs). We have evaluated the role of LCR22 genomic architecture and PRDM9 variants as DGS/VCFS predisposing factors. We applied F...
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| Pubblicato in: | Sci Rep |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5216377/ https://ncbi.nlm.nih.gov/pubmed/28059126 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep40031 |
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