Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.K3067fs
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APOB

NM_000384.3:p.K3067fs

Associated Papers

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.

Mitchell BD et al.

American Journal of Medical Genetics. Part A, 2025

Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.

Wakabayashi T et al.

Journal of Atherosclerosis and Thrombosis, 2024

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Zhou Y et al.

Journal of Lipid Research, 2018

30076208 (PubMed )
Supplement: 10.1194_P086710_jlr.P086710-3.xlsx › Sheet1

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Elbitar S et al.

Scientific Reports, 2018

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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."