Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S421R
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LDLR

NM_000527.5:p.S421R

Associated Papers

Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.

Doi T et al.

Journal of the American Heart Association, 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

Possible explanations for the common clinical familial hypercholesterolemia phenotypes in the Faroe Islands.

Borg SÁ et al.

Journal of Clinical Lipidology, 0

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