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Plos One|January 20, 2018
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral refluxAmelie T van der Ven, Birgit Kobbe, Stefan Kohl, et al.
Human Genetics|June 1, 2015
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tractDaw-Yang Hwang, Stefan Kohl, Xueping Fan, et al.
American Journal of Human Genetics|August 4, 2015
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter DevelopmentAsaf Vivante, Marc-Jens Kleppa, Julian Schulz, et al.
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