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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...

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Detalles Bibliográficos
Autores principales: Beauchamp, Kyle A., Johansen Taber, Katherine A., Muzzey, Dale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2019
Materias:
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