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Updated: Jul 10, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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发育性和性脑病变82 (DEE82) 具有GOT2基因的新型化合物异构突变

Özlem Yalçın Çapan1, Dilşad Türkdoğan2, Sertaç Atalay3

  • 1Department of Medical Biology, Faculty of Medicine, Tekirdağ Namık Kemal University, Tekirdağ, Turkey.

Seizure
|November 17, 2023
PubMed
概括

在一个患有发育性和性脑病变 (DEE) 的患者中,在GOT2基因中发现了新的化合物异构基因突变. 这些遗传发现突出了GOT2的重要意义.

关键词:
亚斯巴酸氨基转移酶是一种亚斯巴酸氨基转移酶.发育性和性脑病变 - 发育性和性脑病变.这种GOT2酶是GOT2酶.代谢的先天性错误 代谢的先天错误马拉酸-阿斯巴酸的航天飞机代谢性是一种代谢性.维生素B6治疗疗法整个外基因组的测序.

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