| Entry |
|
| Name |
|
| Type |
Loss of function
|
| Gene |
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
|
| Disease |
| H00106 | Complement regulatory protein defects |
|
| Reference |
|
| Authors |
Motoyama N, Okada N, Yamashina M, Okada H |
| Title |
Paroxysmal nocturnal hemoglobinuria due to hereditary nucleotide deletion in the HRF20 (CD59) gene. |
| Journal |
|
| LinkDB |
|