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Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes.

Journal of genetics and genomics = Yi chuan xue bao - 20 Apr 2021

Wang Tao, Zhang Yi, Liu Liqui, Wang Yan, Chen Huiqian, Fan Tianda, Li Jinchen, Xia Kun, Sun Zhongsheng

Abstract excerpt

Neurodevelopmental disorders (NDDs) are a set of complex disorders characterized by diverse and co-occurring clinical symptoms. The genetic contribution in patients with NDDs remains largely unknown. Here, we sequence 519 NDD-related genes in 3,195 Chinese probands with neurodevelopmental phenotypes and identify 2,522 putative functional mutations consisting of 137 de novo mutations (DNMs) in 86 genes and 2,385...

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Identifiers

PMID: 33994118
DOI: 10.1016/j.jgg.2021.03.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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