Predicting functional effects of ion channel variants using new phenotypic machine learning methods

Missense variants in genes encoding ion channels are associated with a spectrum of severe diseases. Variant effects on biophysical function correlate with clinical features and can be categorized as gain- or loss-of-function. This information enables a timely diagnosis, facilitates precision therapy...

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Detalles Bibliográficos
Autores principales: Boßelmann, Christian Malte, Hedrich, Ulrike B. S., Lerche, Holger, Pfeifer, Nico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10019634/
https://www.ncbi.nlm.nih.gov/pubmed/36877742
http://dx.doi.org/10.1371/journal.pcbi.1010959

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10019634/
https://www.ncbi.nlm.nih.gov/pubmed/36877742
http://dx.doi.org/10.1371/journal.pcbi.1010959

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