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Updated: May 13, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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新型双变体NUP107影响核孔综合体,并扩大临床范围,包括大脑形

Loisa Dana Bonde1, Laura Hecher1,2,3, Malik Alawi4

  • 1Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Journal of medical genetics
|May 11, 2025
PubMed
概括

NUP107中的新型双变异会导致严重的神经发育障碍,扩大已知的NUP107相关疾病范围,超出脏综合征. 这项研究突出了NUP107的重点.

关键词:
中枢神经系统疾病 中枢神经系统疾病遗传性疾病,先天性疾病遗传研究 遗传研究精神疾病 精神疾病整体外体测序 测序整个外体测序

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