Genetic & Genomic MedicinemedRxivPreprint
Functional analysis of LDLR variants reveals that the novel p.(Ser610Tyr) variant in the YMDD motif drastically impacts LDL uptake
Cris Ortiz López, Neila Rodríguez Roca, Irene Hidalgo Mayoral…·Sonia Rodríguez‐Nóvoa
The paper functionally analyzes LDLR variants in hypercholesterolemia patients, reclassifying five variants as pathogenic and identifying the novel p.(Ser610Tyr) variant as significantly impacting LDL uptake.
DOI 10.1101/2025.05.16.25325576