Cargando…
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...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2023
|
| Materias: | |
| 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 |