Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D227fs
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LDLR

NM_000527.5:p.D227fs

Associated Papers

Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.

Cuchel M et al.

Journal of the American Heart Association, 2023

37119068 (PubMed )
Supplement: JAH3-12-e029175-s001.pdf

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

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.

Fahed AC et al.

Nature Communications, 2020

32820175 (PubMed )
Supplement: 41467_2020_17374_MOESM1_ESM.pdf

Genetic identification of familial hypercholesterolemia within a single U.S. health care system.

Abul-Husn NS et al.

Science (new York, N.y.), 2016

28008010 (PubMed )
Supplement: aaf7000-abul-husn-sm.pdf
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