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[Clinical features and genetics analysis of a Chinese pedigree affected with developmental and epileptic encephalopathy 9].

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

Zhi Ya'nan, Wang Tao, Zhang Pingping, Sun Yanmei, Li Juan, Li Yali

Abstract excerpt

OBJECTIVE: To analyze the clinical and genetic characteristics of a Chinese pedigree affected with developmental and epileptic encephalopathy 9. METHODS: N048: epilepsy full version gene detection panel-V2 and genome wide copy number variation analysis were carried out on the genomic DNA extracted from the peripheral blood samples. Amniotic fluid was also sampled for single nucleoticle polymorphism array...

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Identifiers

PMID: 36082567
DOI: 10.3760/cma.j.cn511374-20210819-00680

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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