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[Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency].

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

Yan Dandan, Xu Xiaowei, Wang Xuetao, Zhang Xinjie, Zhi Xiufang, Wang Hong, Zhang Yuqing, Shu Jianbo

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child with succinate semialdehyde dehydrogenase deficiency. METHODS: Peripheral blood samples of the proband and his parents were collected and subjected to Sanger sequencing. High-throughput sequencing was used to verify the gene variants. Bioinformatic software was used to analyze the pathogenicity of the variant sites. RESULTS: Sanger sequencing showed that the...

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PMID: 35076924
DOI: 10.3760/cma.j.cn511374-20201120-00818

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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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