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Voltage-Gated Ca(2+)-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function – Implications for Potential Therapies
This review summarizes our current knowledge of human disease-relevant genetic variants within the family of voltage gated Ca(2+) channels. Ca(2+) channelopathies cover a wide spectrum of diseases including epilepsies, autism spectrum disorders, intellectual disabilities, developmental delay, cerebe...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7966529/ https://www.ncbi.nlm.nih.gov/pubmed/33746731 http://dx.doi.org/10.3389/fnsyn.2021.634760 |