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The Promise and Peril of Precision Medicine: Phenotyping Still Matters Most

We illustrate the work necessary to reverse course after identification of a KCNQ1 variant interpreted erroneously as causing long QT syndrome (LQTS) and to identify the true cause of a case of sudden death in the young. Surrogate genetic testing of a decedent’s living brother identified a rare KCNQ...

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Publicat a:Mayo Clin Proc
Autors principals: Ackerman, Jaeger P., Bartos, Daniel C., Kapplinger, Jamie D., Tester, David J., Delisle, Brian P., Ackerman, Michael J.
Format: Artigo
Idioma:Inglês
Publicat: 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6365209/
https://ncbi.nlm.nih.gov/pubmed/27810088
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mayocp.2016.08.008
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