Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations

Autor: Cingöz, Sultan, Soydemir, Didem, Öner, Tülay Öncü, Karaca, Ezgi, Özden, Burcu, Kurul, Semra Hız, Bayram, Erhan, Coe, Bradley P., Nickerson, Deborah A., Eichler, Evan E.
Zdroj: In European Journal of Medical Genetics June 2022 65(6)
Databáze: ScienceDirect