Publications:

Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.

Jhep Reports : Innovation In Hepatology

Sierks, Dana D; Schönauer, Ria R; Friedrich, Anja A; Hantmann, Elena E; de Fallois, Jonathan J; Linder, Nikolas N; Fischer, Janett J; Herber, Adam A; Bergmann, Carsten C; Berg, Thomas T; Halbritter, Jan J

Publication Date: 2022-11

Variant appearance in text: PKD1: 1281_1283delGGC; a428del

PubMed Link: 36246085

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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: 1281_1283delGGC; Ala428del

PubMed Link: 25920554

Variant Present in the following documents:

• Main text

View BVdb publication page