Publications:

Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: PKD1: T2414M; rs201267349

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.

Frontiers In Oncology

Guan, Bao B; Wang, Jie J; Li, Xuesong X; Lin, Lin L; Fang, Dong D; Kong, Wenwen W; Tian, Chuangyu C; Li, Juan J; Yang, Kunlin K; Han, Guanpeng G; Wu, Yucai Y; He, Yuhui Y; Peng, Yiji Y; Yu, Yanfei Y; He, Qun Q; He, Shiming S; Gong, Yanqing Y; Zhou, Liqun L; Tang, Qi Q

Publication Date: 2022

Variant appearance in text: PKD1: 7241C>T; Thr2414Met

PubMed Link: 35372080

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.

Nature Communications

Watkins, W Scott WS; Hernandez, E Javier EJ; Wesolowski, Sergiusz S; Bisgrove, Brent W BW; Sunderland, Ryan T RT; Lin, Edwin E; Lemmon, Gordon G; Demarest, Bradley L BL; Miller, Thomas A TA; Bernstein, Daniel D; Brueckner, Martina M; Chung, Wendy K WK; Gelb, Bruce D BD; Goldmuntz, Elizabeth E; Newburger, Jane W JW; Seidman, Christine E CE; Shen, Yufeng Y; Yost, H Joseph HJ; Yandell, Mark M; Tristani-Firouzi, Martin M

Publication Date: 2019-10-17

Variant appearance in text: PKD1: 7241C>T; Thr2414Met; rs201267349

PubMed Link: 31624253

Variant Present in the following documents:

• 41467_2019_12582_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

Bmc Medical Genetics

He, Wen-Bin WB; Xiao, Wen-Juan WJ; Tan, Yue-Qiu YQ; Zhao, Xiao-Meng XM; Li, Wen W; Zhang, Qian-Jun QJ; Zhong, Chang-Gao CG; Li, Xiu-Rong XR; Hu, Liang L; Lu, Guang-Xiu GX; Lin, Ge G; Du, Juan J

Publication Date: 2018-10-17

Variant appearance in text: PKD1: 7241C>T; Thr2414Met

PubMed Link: 30333007

Variant Present in the following documents:

• Main text
• 12881_2018_Article_693.pdf

View BVdb publication page