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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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Publicat a:Genet Med
Autors principals: 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
Idioma:Inglês
Publicat: 2016
Matèries:
Accés en línia: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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