Entry |
|
Name |
|
Type |
Gain of function
|
Gene |
MAP2K2 mitogen-activated protein kinase kinase 2 [KO: K04369]
|
Organism |
hsa_var Human gene variants (Homo sapiens)
|
Variation |
|
Network |
|
Disease |
H01745 | Cardiofaciocutaneous syndrome |
|
Reference |
|
Authors |
Tartaglia M, Aoki Y, Gelb BD |
Title |
The molecular genetics of RASopathies: An update on novel disease genes and new disorders. |
Journal |
|
LinkDB |
|