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Updated: Sep 27, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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十个基因中的罕见编码变异给精神分裂症带来了相当大的风险

Tarjinder Singh1,2,3, Timothy Poterba4,5, David Curtis6,7

  • 1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA. tsingh@broadinstitute.org.

Nature
|April 9, 2022
PubMed
概括

在10个基因中极为罕见的编码变异显著增加了精神分裂症的风险. 这些在脑神经元中高度表达的基因对突触功能至关重要,涉及到精神分裂症发病的谷氨酸系统功能障碍.

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