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Article

[Diagnosis of a case with mental retardation due to novel compound heterozygous variants of TRAPPC9 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2019

Bai Zhouxian, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a boy with mental retardation. METHODS: Clinical data and peripheral blood samples of the family were collected. Potential variants were screened by using a panel for genes associated with intellectual impairment. Suspected variants were verified by PCR and Sanger sequencing. RESULTS: The child presented with mental retardation, language delay and poor self-care....

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Identifiers

PMID: 31703139
DOI: 10.3760/cma.j.issn.1003-9406.2019.11.015

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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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