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Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening

BACKGROUND: Data mining of electronic health records to identify patients suspected of familial hypercholesterolemia (FH) has been limited by absence of both phenotypic and genomic data in the same cohort. METHODS AND RESULTS: Using the Geisinger MyCode Community Health Initiative cohort (n=130 257)...

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Detalles Bibliográficos
Autores principales:	Gidding, Samuel S., Kirchner, H. Lester, Brangan, Andrew, Howard, William, Kelly, Melissa A., Myers, Kelly D., Morgan, Kelly M., Oetjens, Matthew T., Shuey, Timothy C., Staszak, David, Strande, Natasha T., Walters, Nicole L., Yu, Kristen D., Wilemon, Katherine A., Williams, Marc S., Sturm, Amy C., Jones, Laney K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2023
Materias:	Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10356068/ https://www.ncbi.nlm.nih.gov/pubmed/37382153 http://dx.doi.org/10.1161/JAHA.123.030073

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