Clinical whole exome sequencing revealed de novo heterozygous stop-gain and missense variants in the STXBP1 gene associated with epilepsy in Saudi families
| Autor: | Naseer, Muhammad Imran, Abdulkareem, Angham Abdulrhman, Rasool, Mahmood, Shirah, Bader, Algahtani, Hussein, Muthaffar, Osama Y., Pushparaj, Peter Natesan |
|---|---|
| Zdroj: | In Saudi Journal of Biological Sciences July 2022 29(7) |
| Databáze: | ScienceDirect |
| Externí odkaz: |
|