Publications:

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

Frontiers In Bioinformatics

Li, Chang C; Hou, Ian I; Ma, Mingjia M; Wang, Grace G; Bai, Yongsheng Y; Liu, Xiaoming X

Publication Date: 2023

Variant appearance in text: APOE: R163P

PubMed Link: 37091907

Variant Present in the following documents:

• Main text
• fbinf-03-1122559.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: APOE: 488G>C; Arg163Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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

Journal Of Human Genetics

Miyashita, Akinori A; Kikuchi, Masataka M; Hara, Norikazu N; Ikeuchi, Takeshi T

Publication Date: 2022-06-01

Variant appearance in text: APOE: 488G>C; Arg163Pro; rs121918397

PubMed Link: 35641666

Variant Present in the following documents:

• Main text
• 10038_2022_Article_1050.pdf

View BVdb publication page

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications

Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05-26

Variant appearance in text: rs121918397

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: 488G>C; R163P

PubMed Link: 34311745

Variant Present in the following documents:

• Main text
• 13000_2021_Article_1119.pdf

View BVdb publication page

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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: Arg163Pro

PubMed Link: 33663537

Variant Present in the following documents:

• Main text
• 12967_2021_Article_2765.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: APOE: R163P

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: rs121918397

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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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: R163P

PubMed Link: 29398675

Variant Present in the following documents:

• Main text
• jat-25-733.pdf

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

Scientific Reports

Pires, Allan S AS; Porto, William F WF; Franco, Octavio L OL; Alencar, Sérgio A SA

Publication Date: 2017-05-30

Variant appearance in text: APOE: Arg163Pro

PubMed Link: 28559539

Variant Present in the following documents:

• Main text
• 41598_2017_Article_1737.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: APOE: R163P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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