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Article

Pathogenicity analysis of novel variations in Chinese Han patients with polycystic kidney disease.

Gene - 30 Aug 2017

Fang Zishui, Xu Shiyan, Wang Yonghua, Sun Liwei, Feng Yi, Guo Yibin, Li Hongyi, Jiang Weiying

Abstract excerpt

OBJECTIVE: Locus and allellic heterogeneity in polycystic kidney disease (PKD) is a great challenge in precision diagnosis. We aim to establish comprehensive methods to distinguish the pathogenic mutations from the variations in PKD1, PKD2 and PKHD1 genes in a limited time and lay the foundation for precisely prenatal diagnosis, preimplantation genetic diagnosis and presymptom diagnosis of PKD. METHODS: Nested...

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Identifiers

PMID: 28578020
DOI: 10.1016/j.gene.2017.05.046

Genes

PKD1
PKHD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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