APOE c.527G>C ;(p.R176P)

Variant ID: 19-45412080-G-C

NM_000041.2(APOE):c.527G>C;(p.R176P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Case Report: A Pediatric Case of Lipoprotein Glomerulopathy in China and Literature Review.

Frontiers In Pediatrics
Song, Yue Y; Yang, Changqiang C; Liu, Lan L; Wang, Hua H
Publication Date: 2021

Variant appearance in text: APOE: R176P
PubMed Link: 34513758
Variant Present in the following documents:
  • Main text
  • fped-09-684814.pdf
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Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America.

Diagnostic Pathology
da Silveira-Neto, Joaquim Nelito JN; de Oliveira Ahn, Guilherme Jinson GJ; de Menezes Neves, Precil Diego Miranda PDM; Baptista, Vinicius Augusto Ferreira VAF; de Almeida Araújo, Stanley S; Wanderley, David Campos DC; Watanabe, Andréia A; Watanabe, Elieser Hitoshi EH; Murai, Neide Missae NM; Bertollo, Eny Maria Goloni EMG; Vieira-Neto, Osvaldo Merege OM; Dantas, Márcio M; de Antônio, Sergio Ricardo SR; Costa, Roberto Silva RS; Baptista, Maria Alice Sperto Ferreira MASF; Moysés-Neto, Miguel M; Onuchic, Luiz Fernando LF
Publication Date: 2021-07-26

Variant appearance in text: APOE: 527G>C; Arg176Pro
PubMed Link: 34311745
Variant Present in the following documents:
  • Main text
  • 13000_2021_Article_1119.pdf
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Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by APOE mutations.

Molecular Genetics & Genomic Medicine
Yang, Mingxin M; Weng, Qinjie Q; Pan, Xiaoxia X; Hussain, Hafiz Muhammad Jafar HMJ; Yu, Shuwen S; Xu, Jing J; Yu, Xialian X; Liu, Yunzi Y; Jin, Yuanmeng Y; Zhang, Chunli C; Li, Xiao X; Ren, Hong H; Chen, Nan N; Xie, Jingyuan J
Publication Date: 2020-08

Variant appearance in text: APOE: 527G>C; R176P
PubMed Link: 32441489
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1281.pdf
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The Novel Apolipoprotein E Mutation ApoE Chengdu (c.518T>C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy.

Journal Of Atherosclerosis And Thrombosis
Wu, Hongyan H; Yang, Yuan Y; Hu, Zhangxue Z
Publication Date: 2018-08-01

Variant appearance in text: APOE: R176P
PubMed Link: 29398675
Variant Present in the following documents:
  • Main text
  • jat-25-733.pdf
View BVdb publication page