Specification of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia: On behalf of the clingen FH variant curation expert panel. (December 2020)

• Record Type: Journal Article
• Authors: Iacocca, M.A.; Chora, J.R.; Freiberger, T.; Carrie, A.; Sijbrands, E.J.; Wand, H.; Williams, M.; Zimmermann, H.; Leon, A.; Kurtz, C.L.; Tichy, L.; Alves, A.C.; Wang, J.; Cuchel, M.; Humphries, S.E.; Defesche, J.C.; Mata, P.; Santos, R.D.; Kullo, I.J.; Brunham, L.R.; Hegele, R.A.; Knowles, J.W.; Bourbon, M.
• Is Part Of: Atherosclerosis. Volume 315(2020)
• Page Start: e5
• Publication Date: 2020-12
• Subjects: Arteriosclerosis -- Periodicals; Electronic journals; 616.136
• DOI: 10.1016/j.atherosclerosis.2020.10.030
• Languages: English
• ISSNs: 0021-9150