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

Molecular genetics & genomic medicine - 1 Nov 2020

Dong Kexian, Liu Xiaogang, Jia Xueyuan, Miao Huanhuan, Ji Wei, Wu Jie, Huang Yun, Xu Lidan, Zhang Xuelong, Su Hui, Ji Guohua, Liu Peng, Guan Rongwei, Bai Jing, Fu Songbin, Zhou Xianli, Sun Wenjing

Abstract excerpt

BACKGROUND: Polycystic kidney disease (PKD) is an inherited disease that is life-threatening. Multiple cysts are present in the bilateral kidneys of PKD patients. The progressively enlarged cysts cause structural damage and loss of kidney function. METHODS: This study examined and analyzed 12 families with polycystic kidney disease. Whole exome sequencing (WES) or whole genome sequencing (WGS) of the probands was...

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Identifiers

PMID: 32970388
DOI: 10.1002/mgg3.1467
PMCID: PMC7667323

Genes

PKD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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