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[Variation analysis of EPG5 gene in a Vici syndrome family].

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

Yan Lulu, Cai Yan, Liu Yingwen, Han Chunxiao, Huo Yifan, Xie Min, Xue Jiangyang, Li Haibo

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of Vici syndrome in a Chinese family. METHODS: Whole exome sequencing (WES) technology was used to detect gene variants in a fetus of abnormal ultrasonic structure without abnormalities in routine chromosome karyotype analysis and SNP-array. Sanger sequencing and bioinformatics prediction were performed for the suspected variants of the fetus and parents. RESULTS: The...

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PMID: 35076917
DOI: 10.3760/cma.j.cn511374-20210216-00131

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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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