| Entry |
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| Name |
RYR2 gain-of-function mutation
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| Type |
Gain of function
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| 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 |
| H01019 | Catecholaminergic polymorphic ventricular tachycardia |
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| Reference |
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| Authors |
Fowler ED, Zissimopoulos S |
|---|
| Title |
Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease. |
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| Journal |
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| Reference |
|
|---|
| Authors |
Rampazzo A |
|---|
| Title |
Genetic bases of arrhythmogenic right ventricular Cardiomyopathy. |
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| Journal |
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| LinkDB |
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