Article
De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability.
Human genomics - 1 Nov 2022
Chen Wen-Xiong, Liu Bin, Zhou Lijie, Xiong Xiaoli, Fu Jie, Huang Zhi-Fang, Tan Ting, Tang Mingxi, Wang Jun, Tang Ya-Ping
Abstract excerpt
BACKGROUND: Autism spectrum disorder (ASD) is often accompanied by intellectual disability (ID). Despite extensive studies, however, the genetic basis for this comorbidity is still not clear. In this study, we tried to develop an analyzing pipeline for de novo mutations and possible pathways related to ID phenotype in ASD. Whole-exome sequencing (WES) was performed to screen de novo mutations and candidate genes...
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