A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of -related disorders caused by missense changes.

Journal: medRxiv : the preprint server for health sciences

Publication Year: 

Authors & Co-authors:  Flannery Kyle P KP Safwat Sylvia S Matsell Eli E Battula Namarata N Hamed Ahlam A A AAA Mohamed Inaam N IN Elseed Maha A MA Koko Mahmoud M Abubaker Rayan R Abozar Fatima F

Functional and In-silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases.

Journal: Disease models & mechanisms

Publication Year: 

Authors & Co-authors:  Matsell Andersen Molday