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ClinVar database of global familial hypercholesterolemia-associated DNA variants

HUMAN MUTATION

Iacocca, MA; Chora, JR; Carrie, A; Freiberger, T; Leigh, SE; Defesche, JC; Kurtz, CL; DiStefano, MT; Santos, RD; Humphries, SE; Mata, P; Jannes, CE; Hooper, AJ; Wilemon, KA; Benlian, P; O´Connor, R; Garcia, J; Wand, H; Tichy, L; Sijbrands, EJ; Hegele, RA; Bourbon, M; Knowles, JW, 2018: ClinVar database of global familial hypercholesterolemia-associated DNA variants. HUMAN MUTATION 39(11), p. 1631 - 1640, doi: 10.1002/humu.23634

CEITEC authors:

• Prof. Tomáš Freiberger, Ph.D.