APOE c.518T>C ;(p.L173P)

Variant ID: 19-45412071-T-C

NM_000041.2(APOE):c.518T>C;(p.L173P)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Lipoprotein Glomerulopathy, First Case Report from Canada.

International Journal Of Nephrology And Renovascular Disease
Ting, Julie Anne JA; McRae, Susanna A SA; Schwartz, Daniel D; Barbour, Sean J SJ; Riazy, Maziar M
Publication Date: 2022

Variant appearance in text: APOE: 518T>C; L173P
PubMed Link: 35761986
Variant Present in the following documents:
  • ijnrd-15-207.pdf
View BVdb publication page



A novel apolipoprotein E mutation, ApoE Ganzhou (Arg43Cys), in a Chinese son and his father with lipoprotein glomerulopathy: two case reports.

Journal Of Medical Case Reports
Wang, Runxiu R; Zhao, Chengbo C; Chen, Wen W; Liu, Zhiping Z; Xie, Fuhua F
Publication Date: 2022-02-23

Variant appearance in text: APOE: L173P
PubMed Link: 35193676
Variant Present in the following documents:
  • 13256_2022_Article_3302.pdf
View BVdb publication page



Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report.

Medicine
Li, Yunsi Y; Chen, Jin J; Zou, Yurong Y; Wang, Wei W; Li, Guisen G
Publication Date: 2022-02-04

Variant appearance in text: APOE: L173P
PubMed Link: 35119017
Variant Present in the following documents:
  • Main text
  • medi-101-e28718.pdf
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Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report.

Medicine
Li, Yunsi Y; Chen, Jin J; Zou, Yurong Y; Wang, Wei W; Li, Guisen G
Publication Date: 2022-02-04

Variant appearance in text: APOE: L173P
PubMed Link: 35119017
Variant Present in the following documents:
  • Main text
  • medi-101-e28718.pdf
View BVdb publication page



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: L173P
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: 518T>C; L173P
PubMed Link: 34311745
Variant Present in the following documents:
  • Main text
  • 13000_2021_Article_1119.pdf
View BVdb publication page



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

Journal Of Translational Medicine
Wu, Hongyan H; Yang, Jing J; Liu, Yun-Qiang YQ; Lei, Song S; Yang, Mei M; Yang, Zhi Z; Yang, Yuan Y; Hu, Zhangxue Z
Publication Date: 2021-03-04

Variant appearance in text: APOE: L173P
PubMed Link: 33663537
Variant Present in the following documents:
  • 12967_2021_Article_2765.pdf
View BVdb publication page



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: L173P
PubMed Link: 32441489
Variant Present in the following documents:
  • MGG3-8-e1281.pdf
View BVdb publication page



A novel apolipoprotein E mutation (p.Arg150Cys) in a Chinese patient with lipoprotein glomerulopathy.

Chinese Medical Journal
Ku, Ming M; Tao, Cai C; Zhou, An-An AA; Cheng, Yuan Y; Wan, Qi-Jun QJ
Publication Date: 2019-01-20

Variant appearance in text: APOE: 518T>C; L173P
PubMed Link: 30614865
Variant Present in the following documents:
  • cm9-132-237.pdf
View BVdb publication page



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: 518T>C; L173P
PubMed Link: 29398675
Variant Present in the following documents:
  • Main text
  • jat-25-733.pdf
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Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain.

Lipids In Health And Disease
Lamiquiz-Moneo, Itziar I; Blanco-Torrecilla, Cristian C; Bea, Ana M AM; Mateo-Gallego, Rocío R; Pérez-Calahorra, Sofía S; Baila-Rueda, Lucía L; Cenarro, Ana A; Civeira, Fernando F; de Castro-Orós, Isabel I
Publication Date: 2016-04-23

Variant appearance in text: APOE: Leu173Pro
PubMed Link: 27108409
Variant Present in the following documents:
  • Main text
View BVdb publication page