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[Identification of a c.1A>G initial codon variation of ARX gene in a child with severe mental retardation].

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

Shen Xueping, Qi Fengfeng, Gu Chunjian

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child featuring severe mental retardation. METHODS: The child was subjected to target region capture and next generation sequencing. Suspected variants were verified by Sanger sequencing. RESULTS: The child was found to harbor a hemizygous c.1A>G (pMet1?) variation of the ARX gene, for which his mother was a heterozygous carrier. The mutation was unreported previously...

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PMID: 32034737
DOI: 10.3760/cma.j.issn.1003-9406.2020.02.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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