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An epilepsy-associated mutation in the nuclear import receptor KPNA7 reduces nuclear localization signal binding
KPNA7 is a member of the Importin-α family of nuclear import receptors. KPNA7 forms a complex with Importin-β and facilitates the translocation of signal-containing proteins from the cytoplasm to the nucleus. Exome sequencing of siblings with severe neurodevelopmental defects and clinical features o...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7076015/ https://www.ncbi.nlm.nih.gov/pubmed/32179771 http://dx.doi.org/10.1038/s41598-020-61369-5 |