Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C95Y
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LDLR

NM_000527.5:p.C95Y

Associated Papers

Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.

Ferch M et al.

European Journal of Preventive Cardiology, 2025

39535057 (PubMed )
Supplement: zwae331_supplementary_data.docx

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_2

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

Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.

Bañares VG et al.

Journal of Clinical Lipidology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."