Evaluating the functional and genomic analysis of pathogenic junctophilin-2 variants and their association with the pathogenesis of cardiomyopathy to understand their molecular impact on cardiac calcium homeostasis and disease phenotypes
The growing body of evidence suggests that junctophilin-2 (JPH2) variants hold significant potential for diagnostic and therapeutic interventions, particularly within the framework of personalized medicine and genetic screening across diverse populations. Mutations in JPH2 have been associated with...
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2024-11-01
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| Series: | Annals of Pediatric Cardiology |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/apc.apc_173_24 |
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