Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.S3777*
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APOB

NM_000384.3:p.S3777*

Associated Papers

Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.

Wakabayashi T et al.

Journal of Atherosclerosis and Thrombosis, 2024

Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort.

Hammer-Hansen S et al.

European Journal of Human Genetics : Ejhg, 2024

Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.

Guo F et al.

Human Mutation, 2024

40225944 (PubMed )
Supplement: 9115364.f1.pdf

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Wang T et al.

Ebiomedicine, 2022

35665681 (PubMed )
Supplement: mmc26.xlsx › Sheet1

Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease.

Peloso GM et al.

Circulation. Genomic and Precision Medicine, 2019

30939045 (PubMed )
Supplement: hcg-12-e002376-s001.pdf

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."