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Specification of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia: On behalf of the clingen FH variant curation expert panel

Year: 2020
Type: article
DOI: 10.1016/j.atherosclerosis.2020.10.030
Authors: M.A. Iacocca, J.R. Chora, T. Freiberger, A. Carrie, E.J. Sijbrands, H. Wand, M. Williams, H. Zimmermann, A. Leon, C.L. Kurtz, L. Tichy, A.C. Alves, J. Wang, M. Cuchel, S.E. Humphries, J.C. Defesche, P. Mata, R.D. Santos, I.J. Kullo, L.R. Brunham, R.A. Hegele, J.W. Knowles, M. Bourbon
Institutions: Stanford University, National Institute of Health Dr. Ricardo Jorge, Masaryk University, Sorbonne Université, Pitié-Salpêtrière Hospital, Erasmus MC, National Health Service, Ambry Genetics (United States), Color (United States), University of North Carolina at Chapel Hill, University Hospital Brno, Robarts Research Institute, University of Pennsylvania, University College London, Amsterdam UMC Location University of Amsterdam, Universidade de São Paulo, Instituto do Coração - HCFMUSP, Mayo Clinic, University of British Columbia, Western University, Stanford Medicine
Language: English
Subfield: Genetics
Open Access status: closed
OpenAlex ID: W3114775081
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