Publications:

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Analysis of mutations in six Chinese families with autosomal dominant polycystic kidney disease.

American Journal Of Translational Research

Wang, Hanlu H; Dai, Sen S; Zhang, Jianhui J; Li, Yi Y; Gan, Yumian Y; Lu, Tao T; Zhu, Yaobin Y; Wu, Jiabin J; Lin, Ning N; Tang, Faqiang F; Luo, Jiewei J

Publication Date: 2020

Variant appearance in text: PKD1: 11333C>A; Thr3778Asn; rs114656915

PubMed Link: 33437386

Variant Present in the following documents:

• Main text

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Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease.

Molecular Genetics & Genomic Medicine

Dong, Kexian K; Liu, Xiaogang X; Jia, Xueyuan X; Miao, Huanhuan H; Ji, Wei W; Wu, Jie J; Huang, Yun Y; Xu, Lidan L; Zhang, Xuelong X; Su, Hui H; Ji, Guohua G; Liu, Peng P; Guan, Rongwei R; Bai, Jing J; Fu, Songbin S; Zhou, Xianli X; Sun, Wenjing W

Publication Date: 2020-11

Variant appearance in text: PKD1: 11333C>A; T3778N

PubMed Link: 32970388

Variant Present in the following documents:

• Main text
• MGG3-8-e1467.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: PKD1: 11333C>A; Thr3778Asn

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Bmc Medical Genetics

Chen, Xiang X; Yan, Kai K; Gao, Yanyan Y; Wang, Huijun H; Chen, Guoqiang G; Wu, Bingbing B; Qin, Qian Q; Yang, Lin L; Zhou, Wenhao W

Publication Date: 2019-05-30

Variant appearance in text: PKD1: 11333C>A; T3778N

PubMed Link: 31146700

Variant Present in the following documents:

• 12881_2019_813_MOESM1_ESM.xls, sheet 1

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System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.

Scientific Reports

Jin, Meiling M; Xie, Yuansheng Y; Chen, Zhiqiang Z; Liao, Yujie Y; Li, Zuoxiang Z; Hu, Panpan P; Qi, Yan Y; Yin, Zhiwei Z; Li, Qinggang Q; Fu, Ping P; Chen, Xiangmei X

Publication Date: 2016-10-26

Variant appearance in text: PKD1: 11333C>A; T3778N

PubMed Link: 27782177

Variant Present in the following documents:

• srep35945-s1.pdf

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: PKD1: 11333C>A; T3778N

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Oncotarget

Gu, Qingyang Q; Zhang, Bin B; Sun, Hongye H; Xu, Qiang Q; Tan, Yexiong Y; Wang, Guan G; Luo, Qin Q; Xu, Weiguo W; Yang, Shuqun S; Li, Jian J; Fu, Jing J; Chen, Lei L; Yuan, Shengxian S; Liang, Guibai G; Ji, Qunsheng Q; Chen, Shu-Hui SH; Chan, Chi-Chung CC; Zhou, Weiping W; Xu, Xiaowei X; Wang, Hongyang H; Fang, Douglas D DD

Publication Date: 2015-08-21

Variant appearance in text: PKD1: T3778N; rs114656915

PubMed Link: 26062443

Variant Present in the following documents:

• oncotarget-06-20160-s004.xlsx, sheet 1

View BVdb publication page

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