Resolving conflicting LDLR variants in ClinVar - Progress of the ClinGen familial hypercholesterolemia variant curation expert panel

Autor: Chora, J., Iacocca, M., Elnagheeb, M., Kullo, I., Bourbon, M.
Zdroj: In Atherosclerosis August 2023 379 Supplement 1:S12-S12
Databáze: ScienceDirect