A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes
Titel:
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes
Auteur:
Flannery, Kyle P. Safwat, Sylvia Matsell, Eli Battula, Namarata Hamed, Ahlam A. A. Mohamed, Inaam N. Elseed, Maha A. Koko, Mahmoud Abubaker, Rayan Abozar, Fatima Elsayed, Liena E. O. Bhise, Vikram Molday, Robert S. Salih, Mustafa A. Yahia, Ashraf Manzini, M. Chiara