An integrative analysis of functional consequences of PKD2 missense variants on RNA and protein structures: a computational approach
Abstract Background The PKD2, encoding polycystin-2 (PC2) protein, is second major genetic determinant of autosomal dominant polycystic kidney disease (ADPKD) after PKD1. However, the structural and functional consequences of genetic variants in PKD2 remain poorly understood. Given the complexity an...
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| Автори: | , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
SpringerOpen
2024-11-01
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| Серія: | Egyptian Journal of Medical Human Genetics |
| Предмети: | |
| Онлайн доступ: | https://doi.org/10.1186/s43042-024-00593-4 |
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