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[Analysis of clinical phenotype and genetic variants in a Chinese pedigree affected with Angelman syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2021

Jiang Wei, Cao Li, Yu Jing, Na Xiaoxue, Yang Jiyun

Abstract excerpt

OBJECTIVE: To explore the genetic etiology for a Chinese pedigree affected with Angelman syndrome (AS). METHODS: The proband with phenotypes suggestive of AS was subjected to copy number variation sequencing (CNV-seq), methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and high-throughput next generation sequencing (NGS). Variant of the UBE3A gene was verified among family members by...

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PMID: 34365610
DOI: 10.3760/cma.j.cn511374-20200819-00609

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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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