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Updated: Jul 1, 2025

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奥库尔 - 神经发育综合征:对表型和基因型扩张的影响

Haitian Nan1, Min Chu1, Jing Zhang1

  • 1Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

Molecular genetics & genomic medicine
|March 6, 2024
PubMed
概括

奥库尔-神经发育综合征 (OCNDS) 与CSNK2A1基因变异有关. 在一个中国家庭中发现了一种新的框架转移变异,揭示了更温和的表型,并扩大了对OCNDS的理解.

关键词:
在CSNK2A1A1中.在OCNDS中,OCNDS是OCNDS.奥库尔 - Чун格神经发育综合征无意义介导的mRNA衰变是无意义介导的现象型 现象型 是一种现象型.

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