Publications:

PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.

Npj Genomic Medicine

Yu, Chih-Chuan CC; Lee, An-Fu AF; Kohl, Stefen S; Lin, Ming-Yen MY; Cheng, Siao Muk SM; Hung, Chi-Chih CC; Chang, Jer-Ming JM; Chiu, Yi-Wen YW; Hwang, Shang-Jyh SJ; Otto, Edgar A EA; Hildebrandt, Friedhelm F; , ; Hwang, Daw-Yang DY

Publication Date: 2022-07-01

Variant appearance in text: PKD1: 8377C>G; Leu2793Val

PubMed Link: 35778421

Variant Present in the following documents:

• 41525_2022_309_MOESM1_ESM.pdf

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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: 8377C>G; Leu2793Val

PubMed Link: 35372080

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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