Publications:

Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Journal Of The American Society Of Nephrology : Jasn

Cornec-Le Gall, Emilie E; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2018-01

Variant appearance in text: PKD1: 4199del; Leu1400fs

PubMed Link: 29038287

Variant Present in the following documents:

• Main text

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Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

Journal Of The American Society Of Nephrology : Jasn

Bergmann, Carsten C; von Bothmer, Jennifer J; Ortiz Brüchle, Nadina N; Venghaus, Andreas A; Frank, Valeska V; Fehrenbach, Henry H; Hampel, Tobias T; Pape, Lars L; Buske, Annegret A; Jonsson, Jon J; Sarioglu, Nanette N; Santos, Antónia A; Ferreira, Jose Carlos JC; Becker, Jan U JU; Cremer, Reinhold R; Hoefele, Julia J; Benz, Marcus R MR; Weber, Lutz T LT; Buettner, Reinhard R; Zerres, Klaus K

Publication Date: 2011-11

Variant appearance in text: PKD1: 4199del; L1400fs

PubMed Link: 22034641

Variant Present in the following documents:

• Main text

View BVdb publication page