| Entry |
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| Name |
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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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| Variation |
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| Network |
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| Disease |
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| Reference |
|
| Authors |
Lam CW, Xie J, To KF, Ng HK, Lee KC, Yuen NW, Lim PL, Chan LY, Tong SF, McCormick F |
| Title |
A frequent activated smoothened mutation in sporadic basal cell carcinomas. |
| Journal |
|
| Reference |
|
| Authors |
Reifenberger J, Wolter M, Weber RG, Megahed M, Ruzicka T, Lichter P, Reifenberger G |
| Title |
Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. |
| Journal |
Cancer Res 58:1798-803 (1998) |
| Reference |
|
| Authors |
Xie J, Murone M, Luoh SM, Ryan A, Gu Q, Zhang C, Bonifas JM, Lam CW, Hynes M, Goddard A, Rosenthal A, Epstein EH Jr, de Sauvage FJ |
| Title |
Activating Smoothened mutations in sporadic basal-cell carcinoma. |
| Journal |
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| LinkDB |
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