| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H00264 | Charcot-Marie-Tooth disease |
|
|---|
| Reference |
|
|---|
| Authors |
Stone EJ, Kolb SJ, Brown A |
|---|
| Title |
A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
