Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G546delFs
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LDLR

NM_000527.5:p.G546delFs

Associated Papers

Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?

Stevens CAT et al.

Journal of the American Heart Association, 2024

38879446 (PubMed )
Supplement: JAH3-13-e034434-s001.pdf

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

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1
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