Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.I4194T
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APOB

NM_000384.3:p.I4194T

Associated Papers

Simultaneous Assessment of Genetic and Epigenetic Contributions to the Plasma Lipid Levels with Respect to Cardiovascular Risk.

Takeuchi F et al.

Journal of Atherosclerosis and Thrombosis, 2026

Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.

Kim J et al.

Human Genomics, 2025

41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.

Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.

Huang MN et al.

Lipids in Health and Disease, 2024

A Low-Frequency APOB p.(Pro955Ser) Variant Contributes to the Severity of/Variability in Familial Hypercholesterolemia.

Hori M et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease.

Shi M et al.

Stroke and Vascular Neurology, 2022

34880113 (PubMed )
Supplement: svn-2021-001157supp001.pdf

Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.

Jin JL et al.

Ebiomedicine, 2018

30420299 (PubMed )
Supplement: mmc1.pdf

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

The susceptibility gene screening in a Chinese high-altitude pulmonary edema family by whole-exome sequencing.

Yang YZ et al.

Yi Chuan = Hereditas, 2017

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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."