| Entry |
|
| Name |
|
| Type |
Loss of function
|
| Gene |
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
|
| Disease |
| H00293 | Arrhythmogenic right ventricular cardiomyopathy |
|
| Reference |
|
| Authors |
Fowler ED, Zissimopoulos S |
| Title |
Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease. |
| Journal |
|
| Reference |
|
| Authors |
Dulhunty AF |
| Title |
Molecular Changes in the Cardiac RyR2 With Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). |
| Journal |
|
| LinkDB |
|