| Entry |
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| Name |
CDC42 gain-of-function mutation
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| Type |
Gain of function
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| Gene |
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
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| Disease |
| H02667 | Takenouchi-Kosaki syndrome |
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| Reference |
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| Authors |
Kalailingam P, Tan HB, Pan JY, Tan SH, Thanabalu T |
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| Title |
Overexpression of CDC42SE1 in A431 Cells Reduced Cell Proliferation by Inhibiting the Akt Pathway. |
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| Journal |
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| Reference |
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| Authors |
Hamada N, Ito H, Shibukawa Y, Morishita R, Iwamoto I, Okamoto N, Nagata KI |
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| Title |
Neuropathophysiological significance of the c.1449T>C/p.(Tyr64Cys) mutation in the CDC42 gene responsible for Takenouchi-Kosaki syndrome. |
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| Journal |
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| LinkDB |
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