Associated Papers
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
37675602 (PubMed )
Supplement: hcg-16-462-s001.pdf
Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.
Du Z et al.
Iscience, 2022
36325061 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.pdf
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