Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.A399S
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LDLR

NM_000527.5:p.A399S

Associated Papers

Genomic Drivers of Coronary Artery Disease and Risk of Future Outcomes After Coronary Angiography.

Supriami K et al.

Jama Network Open, 2025

39836422 (PubMed )
Supplement: jamanetwopen-e2455368-s001.pdf

2022 Consensus statement on the management of familial hypercholesterolemia in Korea.

Lee CJ et al.

The Korean Journal of Internal Medicine, 2022

Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.

Kim H et al.

Journal of Atherosclerosis and Thrombosis, 2022

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

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
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