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[Application and the limitation of next generation sequencing for the diagnosis of methylmalonic acidemia].

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

Su Lisa, Hu Shuang, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To identify genetic variants among patients with methylmalonic acidemia and provide genetic evidence for prenatal diagnosis. METHODS: Thirty-one probands and their parents were subjected to next generation sequencing (NGS). Suspected variants were verified by Sanger sequencing. RESULTS: 25 probands or their parents were found to harbor previously known pathogenic or likely pathogenic variants, and...

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PMID: 34365614
DOI: 10.3760/cma.j.cn511374-20200321-00187

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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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