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Article

An Intronic Variant of CHD7 Identified in Autism Patients Interferes with Neuronal Differentiation and Development.

Neuroscience bulletin - 1 Aug 2021

Zhang Ran, He Hui, Yuan Bo, Wu Ziyan, Wang Xiuzhen, Du Yasong, Chen Yuejun, Qiu Zilong

Abstract excerpt

Genetic composition plays critical roles in the pathogenesis of autism spectrum disorder (ASD). Especially, inherited and de novo intronic variants are often seen in patients with ASD. However, the biological significance of intronic variants is difficult to address. Here, among a Chinese ASD cohort, we identified a recurrent inherited intronic variant in the CHD7 gene, which is specifically enriched in East...

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Identifiers

PMID: 33948885
DOI: 10.1007/s12264-021-00685-w
PMCID: PMC8353028

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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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