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Biorxiv : the Preprint Server for Biology|February 17, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variationWarren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, et al.Science (New York, N.Y.)|October 30, 2025
The functional landscape of coding variation in the familial hypercholesterolemia gene LDLRDaniel R Tabet, Atina G Coté, Megan C Lancaster, et al.Pageof 3