Publications:

A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes.

Pediatric Diabetes

Sztromwasser, Paweł P; Michalak, Arkadiusz A; Małachowska, Beata B; Młudzik, Paulina P; Antosik, Karolina K; Hogendorf, Anna A; Zmysłowska, Agnieszka A; Borowiec, Maciej M; Młynarski, Wojciech W; Fendler, Wojciech W

Publication Date: 2020-05

Variant appearance in text: PKD1: Trp2587Ter

PubMed Link: 31825128

Variant Present in the following documents:

• Main text

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An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

Plos One

Eisenberger, Tobias T; Decker, Christian C; Hiersche, Milan M; Hamann, Ruben C RC; Decker, Eva E; Neuber, Steffen S; Frank, Valeska V; Bolz, Hanno J HJ; Fehrenbach, Henry H; Pape, Lars L; Toenshoff, Burkhard B; Mache, Christoph C; Latta, Kay K; Bergmann, Carsten C

Publication Date: 2015

Variant appearance in text: PKD1: 7761G>A; Trp2587*

PubMed Link: 25646624

Variant Present in the following documents:

• pone.0116680.s017.pdf

View BVdb publication page