Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants

BACKGROUND: Genome sequencing coupled with electronic heath record data can uncover medically important genetic variation. Interpretation of rare genetic variation and its role in mediating cardiovascular phenotypes is confounded by variants of uncertain significance. METHODS AND RESULTS: We analyze...

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Detalles Bibliográficos
Autores principales: Pottinger, Tess D., Puckelwartz, Megan J., Pesce, Lorenzo L., Robinson, Avery, Kearns, Samuel, Pacheco, Jennifer A., Rasmussen‐Torvik, Laura J., Smith, Maureen E., Chisholm, Rex, McNally, Elizabeth M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7033893/
https://www.ncbi.nlm.nih.gov/pubmed/32009526
http://dx.doi.org/10.1161/JAHA.119.013808

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