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Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Disease Program experience

PURPOSE: Using SNP chip and exome sequence data from individuals participating in the NIH Undiagnosed Diseases Program (UDP), we evaluated the number and therapeutic informativeness of incidental pharmacogenetic variants. METHODS: Pharmacogenomics Knowledgebase (PharmGKB) annotated sequence variants...

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Bibliografske podrobnosti
izdano v:Genet Med
Main Authors: Lee, Elizabeth M.J., Xu, Karen, Mosbrook, Emma, Links, Amanda, Guzman, Jessica, Adams, David R., Flynn, Elise, Valkanas, Elise, Toro, Camillo, Tifft, Cynthia J., Boerkoel, Cornelius F., Gahl, William A., Sincan, Murat
Format: Artigo
Jezik:Inglês
Izdano: 2016
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5133159/
https://ncbi.nlm.nih.gov/pubmed/27253732
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.47
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