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Updated: Jul 11, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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结合细胞组的故障会导致神经发育障碍,并具有重叠的特征

Dong Li1,2,3, Qin Wang4, Allan Bayat5,6,7

  • 1Center for Applied Genomics, and.

The Journal of clinical investigation
|November 14, 2023
PubMed
概括

三种拼接因子的致病变体U2AF2,PRPF19和RBFOX1,导致神经发育障碍 (NDD). 这项研究揭示了对人类大脑发育和功能至关重要的遗传网络.

关键词:
发展发展发展 发展发展遗传性疾病是一种遗传性疾病.遗传学 遗传学 是一个神经发育 神经发育iPS 细胞 细胞 iPS 细胞

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