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: 6930delG

PubMed Link: 36938073

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease.

Molecular Genetics & Genomic Medicine

Dong, Kexian K; Liu, Xiaogang X; Jia, Xueyuan X; Miao, Huanhuan H; Ji, Wei W; Wu, Jie J; Huang, Yun Y; Xu, Lidan L; Zhang, Xuelong X; Su, Hui H; Ji, Guohua G; Liu, Peng P; Guan, Rongwei R; Bai, Jing J; Fu, Songbin S; Zhou, Xianli X; Sun, Wenjing W

Publication Date: 2020-11

Variant appearance in text: PKD1: 6930delG; C2311Vfs*3

PubMed Link: 32970388

Variant Present in the following documents:

• Main text
• MGG3-8-e1467.pdf

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Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.

Plos One

Kinoshita, Moritoshi M; Higashihara, Eiji E; Kawano, Haruna H; Higashiyama, Ryo R; Koga, Daisuke D; Fukui, Takafumi T; Gondo, Nobuhisa N; Oka, Takehiko T; Kawahara, Kozo K; Rigo, Krisztina K; Hague, Tim T; Katsuragi, Kiyonori K; Sudo, Kimiyoshi K; Takeshi, Masahiko M; Horie, Shigeo S; Nutahara, Kikuo K

Publication Date: 2016

Variant appearance in text: PKD1: 6930delG

PubMed Link: 27835667

Variant Present in the following documents:

• pone.0166288.s006.xls, sheet 1

View BVdb publication page