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Article

GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract.

Human genomics - 24 Apr 2024

Du Xuanjin, Wang Chunyan, Liu Jialu, Yu Minghui, Ju Haixin, Xue Shanshan, Li Yaxin, Liu Jiaojiao, Dai Rufeng, Chen Jing, Zhai Yihui, Rao Jia, Wang Xiang, Sun Yubo, Sun Lei, Wu Xiaohui, Xu Hong, Shen Qian

Abstract excerpt

BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are prevalent birth defects. Although pathogenic CAKUT genes are known, they are insufficient to reveal the causes for all patients. Our previous studies indicated GEN1 as a pathogenic gene of CAKUT in mice, and this study further investigated the correlation between GEN1 and human CAKUT. METHODS: In this study, DNA from 910 individuals with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38654324
DOI: 10.1186/s40246-024-00606-8
PMCID: PMC11041010

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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