Publications:

A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Kidney International Reports

Lindemann, Christoph Heinrich CH; Wenzel, Andrea A; Erger, Florian F; Middelmann, Lea L; Borde, Julika J; Hahnen, Eric E; Krauß, Denise D; Oehm, Simon S; Arjune, Sita S; Todorova, Polina P; Burgmaier, Kathrin K; Liebau, Max Christoph MC; Grundmann, Franziska F; Beck, Bodo B BB; Müller, Roman-Ulrich RU

Publication Date: 2023-03

Variant appearance in text: PKD1: 6397_6399delTTC; F2133del

PubMed Link: 36938073

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: PKD1: 6396_6398del

PubMed Link: 36855133

Variant Present in the following documents:

• 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Effect of tolvaptan on renal involvement in patients with autosomal dominant polycystic kidney disease according to different gene mutations.

Clinical And Experimental Nephrology

Moriyama, Tomofumi T; Nakayama, Yosuke Y; Soejima, Mikiko M; Yokota, Yunosuke Y; Ota, Kanji K; Ito, Sakuya S; Kodama, Goh G; Nakamura, Nao N; Kurokawa, Yuka Y; Yano, Junko J; Ueda, Utako U; Takamiya, Yoshimi Y; Kaida, Yusuke Y; Hazama, Takuma T; Shibata, Ryo R; Koda, Yoshiro Y; Fukami, Kei K

Publication Date: 2021-03

Variant appearance in text: PKD1: F2133del

PubMed Link: 33141305

Variant Present in the following documents:

• Main text
• 10157_2020_Article_1988.pdf

View BVdb publication page