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Updated: Jul 16, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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对导致智力障碍的CREBBP和TANGO2变体的分子洞察力

Syeda Iqra Hussain1, Nazif Muhammad1, Niamatullah Khan1

  • 1Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.

The journal of gene medicine
|September 18, 2023
PubMed
概括

这项研究在两个家族中确定了与智力障碍 (ID) 相关的CREBBP和TANGO2基因的新型遗传变异. 这些发现扩大了对鲁宾斯坦-泰比综合征 (RSTS) 和TANGO2相关的代谢性脑病变和心律失常 (TRMEA) 的理解.

关键词:
生物信息学是一种生物信息学.分子遗传学分子遗传学神经学 神经学 神经学

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