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Article

Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample.

Journal of molecular neuroscience : MN - 1 Feb 2020

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

Abstract excerpt

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with high phenotypic and genetic heterogeneity. Whole-exome sequencing studies have shown that de novo single-nucleotide variations (SNVs) play an important role in sporadic ASD. The present study aimed to search for de novo SNVs using whole-exome sequencing in 59 unrelated Chinese ASD sporadic trios, and found 24 genes (including five reported ASD...

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Identifiers

PMID: 31838722
DOI: 10.1007/s12031-019-01456-z
PMCID: PMC7018782

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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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