Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E101fs
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LDLR

NM_000527.5:p.E101fs

Associated Papers

Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease.

Fahed AC et al.

Jama Network Open, 2022

35294538 (PubMed )
Supplement: jamanetwopen-e222687-s001.pdf

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

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.

Vandrovcova J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013

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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."