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ClinVar database of global familial hypercholesterolemia-associated DNA variants HUMAN MUTATION Iacocca, M. A., Chora, J. R., Carrie, A., Freiberger, T., Leigh, S. E., Defesche, J. C., Kurtz, C., DiStefano, M. T., Santos, R. D., Humphries, S. E., Mata, P., Jannes, C. E., Hooper, A. J., Wilemon, K. A., Benlian, P., O'Connor, R., Garcia, J., Wand, H., Tichy, L., Sijbrands, E. J., Hegele, R. A., Bourbon, M., Knowles, J. W., ClinGen FH Variant Curation Expert 2018; 39 (11): 1631–40
View details for DOI 10.1002/humu.23634
View details for Web of Science ID 000447138900016