Publications:

Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.

Kidney International

Hopp, Katharina K; Cornec-Le Gall, Emilie E; Senum, Sarah R SR; Te Paske, Iris B A W IBAW; Raj, Sonam S; Lavu, Sravanthi S; Baheti, Saurabh S; Edwards, Marie E ME; Madsen, Charles D CD; Heyer, Christina M CM; Ong, Albert C M ACM; Bae, Kyongtae T KT; Fatica, Richard R; Steinman, Theodore I TI; Chapman, Arlene B AB; Gitomer, Berenice B; Perrone, Ronald D RD; Rahbari-Oskoui, Frederic F FF; Torres, Vicente E VE; , ; Harris, Peter C PC

Publication Date: 2020-02

Variant appearance in text: N/A

PubMed Link: 31874800

Variant Present in the following documents:

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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: Leu72fs

PubMed Link: 27499327

Variant Present in the following documents:

• Main text
• srep30850.pdf

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