Publications:

Identification of novel PKD1 mutations in two Chinese families with autosomal dominant polycystic kidney disease by targeted next generation sequencing.

Chinese Medical Journal

Liu, Qun Q; Ruan, Jun-Xia JX; Zhang, Jing-Shu JS; Zhang, Lu-Lu LL; Qiu, Guang-Rong GR

Publication Date: 2020-03-20

Variant appearance in text: PKD1: 12608_12635delGGCTGGGGACAAGGTGTGAGCCTGAGCC; Arg4203Profs

PubMed Link: 32097206

Variant Present in the following documents:

• Main text
• cm9-133-738.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: 12608_12635delGGCTGGGGACAAGGTGTGAGCCTGAGCC

PubMed Link: 26274329

Variant Present in the following documents:

• Main text
• pone.0133636.pdf

View BVdb publication page