Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.Y4343fs
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APOB

NM_000384.3:p.Y4343fs

Associated Papers

Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.

Dron JS et al.

Jama Cardiology, 2023

Pilot study of universal screening of children and child-parent cascade testing for familial hypercholesterolaemia in Australia.

Martin AC et al.

Journal of Paediatrics and Child Health, 2022

Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.

Pottinger TD et al.

Journal of the American Heart Association, 2020

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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."