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: 6384C>A; Asn2128Lys

PubMed Link: 30042192

Variant Present in the following documents:

• Main text

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Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Molecular Genetics & Genomic Medicine

Trujillano, Daniel D; Bullich, Gemma G; Ossowski, Stephan S; Ballarín, José J; Torra, Roser R; Estivill, Xavier X; Ars, Elisabet E

Publication Date: 2014-09

Variant appearance in text: PKD1: 6384C>A; Asn2128Lys

PubMed Link: 25333066

Variant Present in the following documents:

• Main text
• mgg30002-0412.pdf

View BVdb publication page