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Updated: Feb 17, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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Published on: August 20, 2019

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与心房 Septal 缺陷相关的 ROBO2 变体定义了一个新的调节元件.

Seong Won Kim1, Michael Parfenov1, Laura Rodriguez-Murillo2,3

  • 1Department of Genetics, Harvard Medical School, Boston, MA (S.W.K., M.P., D.A.C., A.S., O.L., A.T., T.W., L.K.W., J.M.G., H.W., D.M.M.K., D.P., C.E. Seidman, J.G. Seidman).

Circulation. Genomic and precision medicine
|February 16, 2026
PubMed
概括

靠近ROBO2基因的新遗传变异与心房隔膜缺陷 (ASD) 相关,这是一种先天性心脏病. 这些发现揭示了ROBO2的存在.

关键词:
绑定站点 绑定站点染色体是一种染色体.基因表达的基因表达方式人类人类人类人类人类人类.突变发生的突变发生.

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