Varaico: Literature-Extracted Genetic Variants

Gene:APOC4
Variant:p.L96R
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APOC4

NM_001646.3:p.L96R

Associated Papers

GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia.

Shade LMP et al.

Nature Genetics, 2024

39379761 (PubMed )
Supplement: 41588_2024_1939_MOESM3_ESM.xlsx › Supplementary_Table_4

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL19

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nielsen JB et al.

Nature Communications, 2020

33339817 (PubMed )
Supplement: 41467_2020_20086_MOESM4_ESM.xlsx › Data_S12

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Lu X et al.

Nature Genetics, 2017

29083407 (PubMed )
Supplement: NIHMS909133-supplement-2.xlsx › Supplementary_Table_11

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Dewey FE et al.

Science (new York, N.y.), 2016

28008009 (PubMed )
Supplement: aaf6814-dewey-tabless1-s14.xlsx › Table_S6

Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.

Tang CS et al.

Nature Communications, 2015

The association of APOC4 polymorphisms with premature coronary artery disease in a Chinese Han population.

Xu S et al.

Lipids in Health and Disease, 2015

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA

Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia.

Rudd MF et al.

Blood, 2006

Linkage analysis of LDL cholesterol in American Indian populations: the Strong Heart Family Study.

North KE et al.

Journal of Lipid Research, 2006

Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.

Takada D et al.

Journal of Human Genetics, 2002

DNA sequence variation in human apolipoprotein C4 gene and its effect on plasma lipid profile.

Kamboh MI et al.

Atherosclerosis, 2000

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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."