Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.T3413delFs
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APOB

NM_000384.3:p.T3413delFs

Associated Papers

Opportunistic Genomic Screening for Familial Hypercholesterolemia to Improve Low-Density Lipoprotein Cholesterol: A Randomized Clinical Trial.

Vassy JL et al.

Jama Network Open, 2026

Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.

Wakabayashi T et al.

Journal of Atherosclerosis and Thrombosis, 2024

Feasibility and Clinical Utility of Reporting Hereditary Cancer Predisposition Pathogenic Variants Identified in Research Germline Sequencing: A Prospective Interventional Study.

Hutchcraft ML et al.

Jco Precision Oncology, 2024

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Goodrich JK et al.

Nature Communications, 2021

34108472 (PubMed )
Supplement: 41467_2021_23556_MOESM3_ESM.xlsx › Supp_Data_2

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

Interrogation of selected genes influencing serum LDL-Cholesterol levels in patients with well characterized NAFLD.

Vilar-Gomez E et al.

Journal of Clinical Lipidology, 0

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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."