Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.S3718*
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APOB

NM_000384.3:p.S3718*

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

Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Lacaze P et al.

Open Heart, 2021

Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.

Rimbert A et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2021

33207932 (PubMed )
Supplement: atvb_atvb-2020-315491d_supp2.pdf

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.

Rimbert A et al.

Atherosclerosis, 2016

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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."