| Entry |
|
| Name |
|
| Type |
Loss of function
|
| Gene |
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
nt06539 Cytoskeleton in muscle cells |
| Disease |
| H00584 | Epidermolysis bullosa simplex |
| H00593 | Limb-girdle muscular dystrophy |
|
| Reference |
|
| Authors |
Zrelski MM, Kustermann M, Winter L |
| Title |
Muscle-Related Plectinopathies. |
| Journal |
|
| Reference |
|
| Authors |
Natsuga K |
| Title |
Plectin-related skin diseases. |
| Journal |
|
| LinkDB |
|