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Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
Clinically identified genetic variants in ion channels can be benign or cause disease by increasing or decreasing the protein function. As a consequence, therapeutic decision-making is challenging without molecular testing of each variant. Our biophysical knowledge of ion-channel structures and func...
| Autores principales: | , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976975/ https://www.ncbi.nlm.nih.gov/pubmed/36036558 http://dx.doi.org/10.1093/brain/awac305 |