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Identification of de novo mutations in the Chinese ASD cohort via whole-exome sequencing unveils brain regions implicated in autism

2022-05-12

Abstract excerpt

<h4>Background: </h4> Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder characterized by deficits in social interactions and repetitive behaviors. Although hundreds of ASD risk genes, implicated in synaptic formation and transcriptional regulation, have been identified through human genetic studies, the East Asian ASD cohorts are still under-represented in the genome-wide genetic stu...

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Literature Corpus work
dc95ab43-3008-5b5f-bc8a-2b4a66fc10c5
DOI
10.21203/rs.3.rs-729083/v2
Open publication

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Identification of de novo mutations in the Chinese ASD cohort via whole-exome sequencing unveils brain regions implicated in autismDOI 10.21203/rs.3.rs-729083/v2
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