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中国男孩KAT6B疾病的临床特征和潜在机制

Xiaoang Sun1, Xiaona Luo1, Longlong Lin1

  • 1Department of Neurology, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, China.

Molecular genetics & genomic medicine
|June 8, 2023
PubMed
概括

在一个儿童身上发现了KAT6B基因的新型框架转移变异,导致基因表达的改变,并可能影响蛋白质功能和发育. 这一发现突出了KAT6BB的存在.

关键词:
在 KAT6B 中,KAT6B 是中国儿童儿童中国儿童删除变体的删除变体下游产品是下游产品.交互作用的物质是相互作用的.

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