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[Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2022

Zhao Xuechao, Zheng Yuting, Liu Ning, Wang Conghui, Zhao Ganye, Zhang Junjun, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a patient presenting with renal insufficiency. METHODS: The patient was subjected to whole exome sequencing, and the candidate variant was verified by Sanger sequencing. Transcriptional activity of the PAX2 gene was analyzed by using a PRS4-EGFP reporter plasmid. RESULTS: Genetic testing revealed that the patient has carried a novel de novo heterozygous variant c.418C>T...

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Source

Identifiers

PMID: 36184096
DOI: 10.3760/cma.j.cn511374-20210831-00710

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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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