CHORA, J. R., M. A. IACOCCA, Lukas TICHÝ, H. WAND, C. L. KURTZ, H. ZIMMERMANN, A. LEON, M. WILLIAMS, C. L. HUMPHRIES, A. J. HOOPER, M. TRINDER, L. R. BRUNHAM, A. COSTA PEREIRA, C. E. JANNES, M. CHEN, J. CHONIS, J. WANG, S. KIM, T. JOHNSTON,
Přemysl SOUČEK,
Michal KRAMÁREK, S. E LEIGH., A. CARRIÉ, E. J. SIJBRANDS, R. A HEGELE.,
Tomáš FREIBERGER, J. W. KNOWLES a M. BOURBON. The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Genetics In Medicine. United States: Lippincott, Williams & Wilkins, 2022, roč. 24, č. 2, s. 293-306. ISSN 1098-3600. Dostupné z: https://dx.doi.org/10.1016/j.gim.2021.09.012.