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: 11554del; rs724159823

PubMed Link: 28378423

Variant Present in the following documents:

• HUMU-38-870-s001.pdf

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LRP5 variants may contribute to ADPKD.

European Journal Of Human Genetics : Ejhg

Cnossen, Wybrich R WR; te Morsche, René H M RH; Hoischen, Alexander A; Gilissen, Christian C; Venselaar, Hanka H; Mehdi, Soufi S; Bergmann, Carsten C; Losekoot, Monique M; Breuning, Martijn H MH; Peters, Dorien J M DJ; Veltman, Joris A JA; Drenth, Joost P H JP

Publication Date: 2016-02

Variant appearance in text: PKD1: 11554delC; L3852Wfs*93; rs724159823

PubMed Link: 25920554

Variant Present in the following documents:

• Main text

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Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Journal Of The American Society Of Nephrology : Jasn

Rossetti, Sandro S; Hopp, Katharina K; Sikkink, Robert A RA; Sundsbak, Jamie L JL; Lee, Yean Kit YK; Kubly, Vickie V; Eckloff, Bruce W BW; Ward, Christopher J CJ; Winearls, Christopher G CG; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2012-05

Variant appearance in text: PKD1: 11554delC

PubMed Link: 22383692

Variant Present in the following documents:

• Main text

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