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TITLE: CLINVAR LDLR VARIANT CLASSIFICATION VS FH VCEP LDLR SPECIFICATIONS  Full Text
AUTHORS: Chora, Joana; Tichy, Lukas; Iacocca, Michael; Alves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
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TITLE: SPECIFICATION OF ACMG/AMP GUIDELINES FOR VARIANT INTERPRETATION IN FAMILIAL HYPERCHOLESTEROLEMIA  Full Text
AUTHORS: Chora, JR; Iacocca, MA; Carrie, A; Leigh, SE; Tichy, L; Kurtz, CL; Freiberger, T; Sijbrands, EJ; Hegele, RA; Knowles, JW; Bourbon, M;
PUBLISHED: 2019, SOURCE: 87th Congress of the European-Atherosclerosis-Society (EAS) in ATHEROSCLEROSIS, VOLUME: 287
INDEXED IN: WOS