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[Analysis of common genetic variants associated with neuro-synapse development among 60 family trios affected with sporadic autism spectrum disorders].

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

Jiao Jian, Zhang Manxue, Yang Pingyuan, Huang Yan, Hu Xiao, Cai Jia, Yang Chan, Si-Tu Mingjing, Zhang Hui, Fu Lei, Guo Kuifang, Huang Yi

Abstract excerpt

OBJECTIVE: To explore susceptibility genes for autism spectrum disorders (ASD). METHODS: Whole-exome sequencing was carried out for 60 family trios affected with sporadic ASD. Genetic variants discovered in over 10% of the patients were selected for genotype-phenotype correlation and pathway enrichment analysis using Phenolyzer software and metascape database. Combining gene-phenotypic scores, pathway-related...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31922584
DOI: 10.3760/cma.j.issn.1003-9406.2020.01.001

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