Publications:

Effect of tolvaptan on renal involvement in patients with autosomal dominant polycystic kidney disease according to different gene mutations.

Clinical And Experimental Nephrology

Moriyama, Tomofumi T; Nakayama, Yosuke Y; Soejima, Mikiko M; Yokota, Yunosuke Y; Ota, Kanji K; Ito, Sakuya S; Kodama, Goh G; Nakamura, Nao N; Kurokawa, Yuka Y; Yano, Junko J; Ueda, Utako U; Takamiya, Yoshimi Y; Kaida, Yusuke Y; Hazama, Takuma T; Shibata, Ryo R; Koda, Yoshiro Y; Fukami, Kei K

Publication Date: 2021-03

Variant appearance in text: PKD1: Y3781X

PubMed Link: 33141305

Variant Present in the following documents:

• Main text

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: PKD1: 11343C>G; Tyr3781Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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The Clinical Manifestation and Management of Autosomal Dominant Polycystic Kidney Disease in China.

Kidney Diseases (Basel, Switzerland)

Xue, Cheng C; Zhou, Chen-Chen CC; Wu, Ming M; Mei, Chang-Lin CL

Publication Date: 2016-10

Variant appearance in text: PKD1: Y3781*

PubMed Link: 27921038

Variant Present in the following documents:

• Main text

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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: Tyr3781Ter

PubMed Link: 26632257

Variant Present in the following documents:

• srep17468.pdf

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