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Article

Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing.

Journal of human genetics - 1 Feb 2023

Chen Jiaoyang, Chen Yi, Yang Ying, Niu Xueyang, Zhang Jing, Zeng Qi, Liu Aijie, Xu Xiaojing, Yang Xiaoxu, Li Shupin, Yang Xiaoling, Wang Yi, Zhang Yuehua

Abstract excerpt

AIM: To investigate the occurrence of mosaicism in epilepsy probands and their parents using amplicon-based deep sequencing (ADS). METHODS: Patients were recruited from the outpatient of Peking University First Hospital. Two hundred and sixty-four probands with pathogenic variants tested by next-generation sequencing (NGS) were enrolled. RESULTS: Mosaic variants were detected in seventeen disease-associated genes...

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PMID: 36482122
DOI: 10.1038/s10038-022-01103-3

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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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