| Entry |
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|---|
| Name |
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| Type |
Loss of function
|
|---|
| Gene |
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|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
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|---|
| Variation |
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| Network |
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| Disease |
| H00266 | Hereditary spastic paraplegia |
|
|---|
| Reference |
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|---|
| Authors |
Liu Q, Zhang G, Ji Z, Lin H |
|---|
| Title |
Molecular and cellular mechanisms of spastin in neural development and disease (Review). |
|---|
| Journal |
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|---|
| Reference |
|
|---|
| Authors |
Charvin D, Cifuentes-Diaz C, Fonknechten N, Joshi V, Hazan J, Melki J, Betuing S |
|---|
| Title |
Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. |
|---|
| Journal |
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|---|
| LinkDB |
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