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: 8590G>T; Glu2864*

PubMed Link: 35778421

Variant Present in the following documents:

• Main text
• 41525_2022_Article_309.pdf

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Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

Plos One

Liu, Yanqiu Y; Wei, Xiaoming X; Kong, Xiangdong X; Guo, Xueqin X; Sun, Yan Y; Man, Jianfen J; Du, Lique L; Zhu, Hui H; Qu, Zelan Z; Tian, Ping P; Mao, Bing B; Yang, Yun Y

Publication Date: 2015

Variant appearance in text: PKD1: 8590G>T; E2864*

PubMed Link: 26274329

Variant Present in the following documents:

• Main text
• pone.0133636.pdf

View BVdb publication page