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Updated: Jul 16, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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一种CAMK2B变体与Fallot四分法,发育迟缓和生长迟缓有关

Yuji Horii1, Yukiko Kuroda1, Yoko Saito1

  • 1Division of Medical Genetics, Kanagawa Children's Medical Center, Japan.

European journal of medical genetics
|September 21, 2023
PubMed
概括

一个新的CAMK2B基因变异被确定在一个患有发育迟缓和Fallot四分法 (TOF) 的患者身上. 这一发现表明CAMK2B变体与这种特定的先天性心脏缺陷之间存在潜在联系.

关键词:
这就是CAMK2A.这就是CAMK2B.发育迟缓 发展迟缓增长减缓 增长减缓费洛特的四部曲 费洛特四部曲

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