Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R163P
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APOE

NM_000041.4:p.R163P

Associated Papers

Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease.

Kawamoto R et al.

Journal of Nephrology, 2025

40753325 (PubMed )
Supplement: 40620_2025_2355_MOESM1_ESM.docx

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

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2025

Genetics of Alzheimer's disease: an East Asian perspective.

Miyashita A et al.

Journal of Human Genetics, 2023

Orthogonal analysis of variants in APOE gene using in-silico approaches reveals novel disrupting variants.

Li C et al.

Frontiers in Bioinformatics, 2023

Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America.

da Silveira-Neto JN et al.

Diagnostic Pathology, 2021

Lipoprotein glomerulopathy induced by ApoE Kyoto mutation in ApoE-deficient mice.

Wu H et al.

Journal of Translational Medicine, 2021

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

A case of lipoprotein glomerulopathy with a rare apolipoprotein E isoform combined with neurofibromatosis type I.

Takasaki S et al.

Cen Case Reports, 2018

In silico analyses of deleterious missense SNPs of human apolipoprotein E3.

Pires AS et al.

Scientific Reports, 2017

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

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

Matsunaga A et al.

Clinical and Experimental Nephrology, 2014

A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy.

Toyota K et al.

Journal of Human Genetics, 2013

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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."