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Updated: Jul 16, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在EFCAB7的变体背后的非综合征性后轴多样性

Muhammad Bilal1, Hammal Khan2,3, Muhammad Javed Khan4

  • 1Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

European journal of human genetics : EJHG
|September 8, 2023
PubMed
概括

这项研究确定了EFCAB7基因中的新型突变是巴基斯坦家庭自体逆性非综合征性后轴多肢症的原因. 这些发现凸显了EFCAB7的重点.

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