Publications:

Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.

Scientific Reports

Liu, Bei B; Chen, Song-Chang SC; Yang, Yan-Mei YM; Yan, Kai K; Qian, Ye-Qing YQ; Zhang, Jun-Yu JY; Hu, Yu-Ting YT; Dong, Min-Yue MY; Jin, Fan F; Huang, He-Feng HF; Xu, Chen-Ming CM

Publication Date: 2015-12-03

Variant appearance in text: PKD1: Cys2522Ter

PubMed Link: 26632257

Variant Present in the following documents:

• Main text
• srep17468.pdf

View BVdb publication page

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: 7566C>A; C2522*

PubMed Link: 26274329

Variant Present in the following documents:

• Main text
• pone.0133636.pdf

View BVdb publication page