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Updated: Jul 7, 2025

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复杂自闭症谱系障碍在患有新型De Novo异质合体MYT1L变异的患者中

Silas Yip1,2, Kristina Calli1,2,3, Ying Qiao1,2,3

  • 1Department of Medical Genetics, University of British Columbia (UBC), Vancouver, BC V6H 3N1, Canada.

Genes
|December 23, 2023
PubMed
概括

这项研究确定了与自闭症谱系障碍 (ASD) 相关的MYT1L基因的新型突变. 这些发现突出了MYT1L的发现.

关键词:
这是一个神话 MYT1LL.自闭症谱系障碍 (ASD)在新的 de novo.神经发育障碍是一种神经发育障碍.单核酸变体 (SNV) 是一种单核酸变体.全基因组测序 (WGS) 是一种全基因组测序.

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