| Entry |
|
| Name |
|
| Type |
Gain of function
|
| Gene |
SHOC2 leucine-rich repeat protein SHOC-2 isoform 1 [KO: K19613]
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
|
| Disease |
| H02191 | Noonan-like syndrome with loose anagen hair |
|
| Reference |
|
| Authors |
Pudewell S, Wittich C, Kazemein Jasemi NS, Bazgir F, Ahmadian MR |
| Title |
Accessory proteins of the RAS-MAPK pathway: moving from the side line to the front line. |
| Journal |
|
| Reference |
|
| Authors |
Tartaglia M, Aoki Y, Gelb BD |
| Title |
The molecular genetics of RASopathies: An update on novel disease genes and new disorders. |
| Journal |
|
| Reference |
|
| Authors |
Riller Q, Rieux-Laucat F |
| Title |
RASopathies: From germline mutations to somatic and multigenic diseases. |
| Journal |
|
| LinkDB |
|