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Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen
PURPOSE: Carrier screening identifies couples at high risk for conceiving offspring affected with serious heritable conditions. Minimal guidelines recommend offering testing for cystic fibrosis and spinal muscular atrophy, but expanded carrier screening (ECS) assesses hundreds of conditions simultan...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group US
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752320/ https://www.ncbi.nlm.nih.gov/pubmed/30760891 http://dx.doi.org/10.1038/s41436-019-0455-8 |