A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.
Flannery KP, Safwat S, Matsell E, Battula N, Hamed AAA, Mohamed IN, Elseed MA, Koko M, Abubaker R, Abozar F, Elsayed LEO, Bhise V, Molday RS, Salih MA, Yahia A, Manzini MC.
Flannery KP, et al. Among authors: matsell e.
medRxiv [Preprint]. 2024 May 15:2024.05.15.24306843. doi: 10.1101/2024.05.15.24306843.
medRxiv. 2024.
PMID: 38798571
Free PMC article.
Updated.
Preprint.