Publications:

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Genomic insights into the evolution of Echinochloa species as weed and orphan crop.

Nature Communications

Wu, Dongya D; Shen, Enhui E; Jiang, Bowen B; Feng, Yu Y; Tang, Wei W; Lao, Sangting S; Jia, Lei L; Lin, Han-Yang HY; Xie, Lingjuan L; Weng, Xifang X; Dong, Chenfeng C; Qian, Qinghong Q; Lin, Feng F; Xu, Haiming H; Lu, Huabing H; Cutti, Luan L; Chen, Huajun H; Deng, Shuiguang S; Guo, Longbiao L; Chuah, Tse-Seng TS; Song, Beng-Kah BK; Scarabel, Laura L; Qiu, Jie J; Zhu, Qian-Hao QH; Yu, Qin Q; Timko, Michael P MP; Yamaguchi, Hirofumi H; Merotto, Aldo A; Qiu, Yingxiong Y; Olsen, Kenneth M KM; Fan, Longjiang L; Ye, Chu-Yu CY

Publication Date: 2022-02-03

Variant appearance in text: NPC1: Arg389Cys

PubMed Link: 35115514

Variant Present in the following documents:

• 41467_2022_28359_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic insights into the evolution of Echinochloa species as weed and orphan crop.

Nature Communications

Wu, Dongya D; Shen, Enhui E; Jiang, Bowen B; Feng, Yu Y; Tang, Wei W; Lao, Sangting S; Jia, Lei L; Lin, Han-Yang HY; Xie, Lingjuan L; Weng, Xifang X; Dong, Chenfeng C; Qian, Qinghong Q; Lin, Feng F; Xu, Haiming H; Lu, Huabing H; Cutti, Luan L; Chen, Huajun H; Deng, Shuiguang S; Guo, Longbiao L; Chuah, Tse-Seng TS; Song, Beng-Kah BK; Scarabel, Laura L; Qiu, Jie J; Zhu, Qian-Hao QH; Yu, Qin Q; Timko, Michael P MP; Yamaguchi, Hirofumi H; Merotto, Aldo A; Qiu, Yingxiong Y; Olsen, Kenneth M KM; Fan, Longjiang L; Ye, Chu-Yu CY

Publication Date: 2022-02-03

Variant appearance in text: NPC1: Arg389Cys

PubMed Link: 35115514

Variant Present in the following documents:

• 41467_2022_28359_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Scientific Reports

Chiorean, Andreea A; Garver, William S WS; Meyre, David D

Publication Date: 2020-11-02

Variant appearance in text: rs1053321823

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1
• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 3

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: NPC1: 1165C>T; Arg389Cys

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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Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.

Human Mutation

Wang, Nan N; Zhang, Yeting Y; Gedvilaite, Erika E; Loh, Jui Wan JW; Lin, Timothy T; Liu, Xiuping X; Liu, Chang-Gong CG; Kumar, Dibyendu D; Donnelly, Robert R; Raymond, Kimiyo K; Schuchman, Edward H EH; Sleat, David E DE; Lobel, Peter P; Xing, Jinchuan J

Publication Date: 2017-11

Variant appearance in text: NPC1: Arg389Cys

PubMed Link: 28703315

Variant Present in the following documents:

• Main text

View BVdb publication page

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Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.

Journal Of Neurology

Sedel, Frédéric F; Chabrol, Brigitte B; Audoin, Bertrand B; Kaphan, Elsa E; Tranchant, Christine C; Burzykowski, Tomasz T; Tourbah, Ayman A; Vanier, Marie T MT; Galanaud, Damien D

Publication Date: 2016-05

Variant appearance in text: NPC1: R389C

PubMed Link: 26984608

Variant Present in the following documents:

• Main text
• 415_2016_Article_8051.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: NPC1: R389C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: NPC1: R389C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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