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Updated: Jun 1, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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双基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因

Rebecca Buchert1, Martin D Burkhalter2, Chrisovalantou Huridou3

  • 1Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

American journal of human genetics
|January 17, 2025
PubMed
概括

基因变异在KICS2导致智力障碍和通过破坏mTORC1信号和毛功能. 这项研究确定了KICS2作为参与神经发育障碍的关键基因.

关键词:
C12orf6666 的意思是什么在KICS2中,KICS2是指KICS2.这里是KICSTOR综合体.这就是MTOR规则.纤维细胞的产生.智力障碍 智力障碍是一种智力障碍.

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