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 |
|