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与肺动脉高血压相关的EIF2AK4 (GCN2) 误解变体的功能验证

Giulia Emanuelli1, JiaYi Zhu1, Wei Li2,3

  • 1Cambridge Institute for Medical Research (CIMR), University of Cambridge, Keith Peters Building, Biomedical Campus, Hills Rd, Cambridge CB2 0XY, United Kingdom.

Human molecular genetics
|May 22, 2024
PubMed
概括

研究人员评估了肺动脉高血压 (PAH) 中的EIF2AK4基因变异. 实验测试揭示了计算预测的局限性,确定了一些变异为非致病性,并将功能失调的GCN2变异分类为潜在的治疗策略.

关键词:
在EIF2AK4中,EIF2AK4是EIF2AK4.在 GCN2 中.这是一个PVOD,PVOD是PVOD.错误的意义变体的变体肺高血压是一种肺高血压.

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