Publications:

System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.

Scientific Reports

Jin, Meiling M; Xie, Yuansheng Y; Chen, Zhiqiang Z; Liao, Yujie Y; Li, Zuoxiang Z; Hu, Panpan P; Qi, Yan Y; Yin, Zhiwei Z; Li, Qinggang Q; Fu, Ping P; Chen, Xiangmei X

Publication Date: 2016-10-26

Variant appearance in text: PKD1: 8905C>T; Q2969*

PubMed Link: 27782177

Variant Present in the following documents:

• srep35945-s1.pdf

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Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.

European Journal Of Human Genetics : Ejhg

Mallawaarachchi, Amali C AC; Hort, Yvonne Y; Cowley, Mark J MJ; McCabe, Mark J MJ; Minoche, André A; Dinger, Marcel E ME; Shine, John J; Furlong, Timothy J TJ

Publication Date: 2016-11

Variant appearance in text: PKD1: 8905C>T; Gln2969*

PubMed Link: 27165007

Variant Present in the following documents:

• Main text

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