Entry |
|
Name |
|
Type |
Gain of function
|
Gene |
SHOC2 SHOC2 leucine rich repeat scaffold protein [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 |
|