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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...

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Dettagli Bibliografici
Pubblicato in:Sci Rep
Autori principali: Oostdyk, Luke T., Wang, Zhenjia, Zang, Chongzhi, Li, Hui, McConnell, Michael J., Paschal, Bryce M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7076015/
https://ncbi.nlm.nih.gov/pubmed/32179771
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-61369-5
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