Publications:

Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Human Mutation

Borràs, Daniel M DM; Vossen, Rolf H A M RHAM; Liem, Michael M; Buermans, Henk P J HPJ; Dauwerse, Hans H; van Heusden, Dave D; Gansevoort, Ron T RT; den Dunnen, Johan T JT; Janssen, Bart B; Peters, Dorien J M DJM; Losekoot, Monique M; Anvar, Seyed Yahya SY

Publication Date: 2017-07

Variant appearance in text: PKD1: 7214G>T; Trp2405Leu

PubMed Link: 28378423

Variant Present in the following documents:

• Main text
• HUMU-38-870.pdf
• HUMU-38-870-s001.pdf

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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: Trp2405Leu

PubMed Link: 26632257

Variant Present in the following documents:

• Main text
• srep17468.pdf

View BVdb publication page