Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S786C
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LDLR

NM_000527.5:p.S786C

Associated Papers

Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.

Souter V et al.

Circulation. Genomic and Precision Medicine, 2024

38506081 (PubMed )
Supplement: hcg-17-e004457-s001.docx

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

Ezetimibe in the management of homozygous familial hypercholesterolaemia.

Mansfield BS et al.

Journal of Clinical Lipidology, 0

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