Pub. Date : 2022 Jan 1
PMID : 34730774
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome. | Calcium | ryanodine receptor 2 | Homo sapiens |
| 2 | Importance: Calcium-release deficiency syndrome (CRDS), which is caused by loss-of-function variants in cardiac ryanodine receptor 2 (RyR2), is an emerging cause of ventricular fibrillation. | Calcium | ryanodine receptor 2 | Homo sapiens |
| 3 | Conclusions and Relevance: The results of this study suggest that calcium-release deficiency syndrome due to RyR2 loss-of-function variants mechanistically and phenotypically differs from CPVT. | Calcium | ryanodine receptor 2 | Homo sapiens |