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[Identification of a novel AGPAT2 variant in a Chinese patient with congenital generalized lipodystrophy type 1].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2020

Wang Yiping, Zhu Yanli, Bai Jinli, Liu Ziqin, Chen Xiaobo

Abstract excerpt

OBJECTIVE: To explore the genetic basis for an infant with congenital generalized lipodystrophy. METHODS: Peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA. All exons and flanking sequences of the AGPAT2 gene were subjected to Sanger sequencing. RESULTS: The child was found to harbor compound heterozygous c.792_805delGGAGAACGGGGCCA (p.Gln264Hisfs*208) and...

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PMID: 32924125
DOI: 10.3760/cma.j.cn511374-20190610-00287

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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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