Publications:

Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.

Journal Of The American Society Of Nephrology : Jasn

Tan, Adrian Y AY; Zhang, Tuo T; Michaeel, Alber A; Blumenfeld, Jon J; Liu, Genyan G; Zhang, Wanying W; Zhang, Zhengmao Z; Zhu, Yi Y; Rennert, Lior L; Martin, Che C; Xiang, Jenny J; Salvatore, Steven P SP; Robinson, Brian D BD; Kapur, Sandip S; Donahue, Stephanie S; Bobb, Warren O WO; Rennert, Hanna H

Publication Date: 2018-08

Variant appearance in text: PKD1: 5395C>T; Gln1799*

PubMed Link: 30042192

Variant Present in the following documents:

• Main text

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Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Scientific Reports

Carrera, Paola P; Calzavara, Silvia S; Magistroni, Riccardo R; den Dunnen, Johan T JT; Rigo, Francesca F; Stenirri, Stefania S; Testa, Francesca F; Messa, Piergiorgio P; Cerutti, Roberta R; Scolari, Francesco F; Izzi, Claudia C; Edefonti, Alberto A; Negrisolo, Susanna S; Benetti, Elisa E; Alibrandi, Maria Teresa Sciarrone MT; Manunta, Paolo P; Boletta, Alessandra A; Ferrari, Maurizio M

Publication Date: 2016-08-08

Variant appearance in text: PKD1: 5395C>T; Gln1799*

PubMed Link: 27499327

Variant Present in the following documents:

• srep30850-s4.xlsx, sheet 1

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