Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R168C
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APOE

NM_000041.4:p.R168C

Associated Papers

Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features.

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2025

Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.

Liu Y et al.

Human Genome Variation, 2023

37217505 (PubMed )
Supplement: 41439_2023_238_MOESM1_ESM.xlsx › Sheet1

The Novel Apolipoprotein E Mutation ApoE Chengdu (c.518T>C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy.

Wu H et al.

Journal of Atherosclerosis and Thrombosis, 2018

Apolipoprotein E mutations: a comparison between lipoprotein glomerulopathy and type III hyperlipoproteinemia.

Matsunaga A et al.

Clinical and Experimental Nephrology, 2014

Lipoprotein glomerulopathy associated with a mutation in apolipoprotein e.

Magistroni R et al.

Clinical Medicine Insights. Case Reports, 2013

Lipoprotein glomerulopathy treated with LDL-apheresis (Heparin-induced Extracorporeal Lipoprotein Precipitation system): a case report.

Russi G et al.

Journal of Medical Case Reports, 2009

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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."