| Entry |
|
|---|
| Name |
|
|---|
| Type |
Gain of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H01592 | Medullary thyroid cancer |
| H01745 | Cardiofaciocutaneous syndrome |
| H02541 | Juvenile myelomonocytic leukemia |
|
|---|
| 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 |
Addissie YA, Kotecha U, Hart RA, Martinez AF, Kruszka P, Muenke M |
|---|
| Title |
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Gupta AK, Meena JP, Chopra A, Tanwar P, Seth R |
|---|
| Title |
Juvenile myelomonocytic leukemia-A comprehensive review and recent advances in management. |
|---|
| Journal |
Am J Blood Res 11:1-21 (2021) |
|---|
| LinkDB |
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|---|
