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...

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Detalles Bibliográficos
Autores principales: Brünger, Tobias, Pérez-Palma, Eduardo, Montanucci, Ludovica, Nothnagel, Michael, Møller, Rikke S, Schorge, Stephanie, Zuberi, Sameer, Symonds, Joseph, Lemke, Johannes R, Brunklaus, Andreas, Traynelis, Stephen F, May, Patrick, Lal, Dennis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
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

Internet

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

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