| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 [KO: K10602]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H00810 | Progressive myoclonic epilepsy |
|
|---|
| Reference |
|
|---|
| Authors |
Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA |
|---|
| Title |
Lafora disease - from pathogenesis to treatment strategies. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Zatyka M, Sarkar S, Barrett T |
|---|
| Title |
Autophagy in Rare (NonLysosomal) Neurodegenerative Diseases. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
