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[Diagnosis of glutaric acidemia type ⅡC by fetal whole exome sequencing].

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

Zhen Yanhua, Lu Xuefeng, Qiu Jingtao, Cui Jinquan

Abstract excerpt

OBJECTIVE: To explore the genetic basis of a fetus with enlargement and enhanced echo of the kidneys. METHODS: The imaging data of the fetus were collected, in addition with 20 mL amniotic fluid sample and 2 mL peripheral blood samples of both parents. Amniotic DNA was extracted for library construction and whole exome sequencing, and Sanger sequencing was carried out to verify candidate variant associated with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 32924120
DOI: 10.3760/cma.j.cn511374-20200520-00364

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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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