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Updated: Sep 9, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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在SCN2A中非编码突变与自闭症谱系障碍有关

Yuan Zhang1, Mian Umair Ahsan1, Kai Wang1,2

  • 1Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

iScience
|September 2, 2025
PubMed
概括

这项研究表明,SCN2A基因的编码和非编码突变都与自闭症谱系障碍 (ASD) 风险有关. 这一发现突显了非编码区域在自闭症遗传研究中的重要性.

关键词:
发育遗传学人类遗传学定量遗传学

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