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DNAH14 variants are associated with neurodevelopmental disorders.

Human mutation - 1 Jul 2022

Li Juan, Yuan Yu, Liu Chaorong, Xu Yuchen, Xiao Neng, Long Hongyu, Luo Zhaohui, Meng Shujuan, Wang Hua, Xiao Bo, Mao Xiao, Long Lili

Abstract excerpt

Neurodevelopmental disorders (NDD) are complex and multifaceted diseases involving genetic and environmental sciences. Rapid developments in sequencing techniques have made it possible to identify new disease-causing genes. Our study aimed to identify novel genes associated with NDDs. Trio whole-exome sequencing was performed to evaluate potential NDD variants. We identified three unrelated patients with compound...

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PMID: 35438214
DOI: 10.1002/humu.24386

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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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