Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D96N
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LDLR

NM_000527.5:p.D96N

Associated Papers

Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia.

Levy ME et al.

Circulation. Genomic and Precision Medicine, 2025

41190428 (PubMed )
Supplement: hcg-18-e005206-s002.xlsx › LDLR

Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in Cardiovascular Disease.

Islam MM et al.

Jacc. Basic to Translational Science, 2025

40131152 (PubMed )
Supplement: mmc1.pdf

Familial Hypercholesterolemia Genetic Variations and Long-Term Cardiovascular Outcomes in Patients with Hypercholesterolemia Who Underwent Coronary Angiography.

Lee WJ et al.

Genes, 2021

Molecular modeling of LDLR aids interpretation of genomic variants.

Klee EW et al.

Journal of Molecular Medicine (berlin, Germany), 2019

30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1

Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect.

Huang CH et al.

Journal of Clinical Lipidology, 0

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