<i>De novo</i> missense variants of <i>UNC13A</i> are implicated in epileptic encephalopathies and neurodevelopmental disorders.

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作者： Ke,Su ^[1] ; Yu,Ma ^[1] ; Mingshan,Zhou ^[1] ; Yihan,Liu ^[2] ; Chengjie,Li ^[2] ; Yonghui,Jiang ^[3] ; Qihui,Wu ^[2] ; Gang,Peng ^[1] ; Yi,Wang ^[1] ; Shaohua,Fan ^[1]

作者单位： Division of Neurology, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Human Phenome Institute and School of Life Sciences, Institute of Brain Science of Fudan University, Shanghai 200438, China. ^[1] Translational Research Institute of Brain and Brain-Like Intelligence, Shanghai Fourth People's Hospital Affiliated to Tongji University School of Medicine, Shanghai 200434, China. ^[2] Department of Genetics, Neuroscience, and Pediatrics, Yale University School of Medicine, New Haven, CT 06510, USA. ^[3]

DOI 10.1016/j.gendis.2024.101315

PMID 39634123

发布时间 2024-12-07

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Genes & diseases

2025年12卷2期

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<i>De novo</i> missense variants of <i>UNC13A</i> are implicated in epileptic encephalopathies and neurodevelopmental disorders.

Genes & diseases

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Genes & diseases

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<i>De novo</i> missense variants of <i>UNC13A</i> are implicated in epileptic encephalopathies and neurodevelopmental disorders.

Genes & diseases

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Genes & diseases

相关期刊

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