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Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders
Junctophilin-3 belongs to a triprotein junctional complex implicated in the regulation of neuronal excitability and involved in the formation of junctional membrane structures between voltage-gated ion channels and endoplasmic (ryanodine) reticular receptors. A monoallelic trinucleotide repeat expan...
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| Publicado no: | Eur J Hum Genet |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8187377/ https://ncbi.nlm.nih.gov/pubmed/33824468 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-021-00866-1 |
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