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Estimates of penetrance for recurrent pathogenic copy-number variations
PURPOSE: Although an increasing number of copy-number variations are being identified as susceptibility loci for a variety of pediatric diseases, the penetrance of these copy-number variations remains mostly unknown. This poses challenges for counseling, both for recurrence risks and prenatal diagno...
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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group
2013
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3664238/ https://ncbi.nlm.nih.gov/pubmed/23258348 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2012.164 |
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