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May 15, 2024Open Access

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability ofATP8A2-related disorders caused by missense changes

Kyle P. Flannery Sylvia Safwat Eli Matsell Namarata Battula Ahlam A. Hamed Inaam N. Mohamed Maha A. Elseed Mahmoud Koko Rayan Abubaker Fatima Abozar Liena E. O. Elsayed Vikram Bhise Robert S. Molday Mustafa A. Salih Ashraf Yahia M. Chiara Manzini

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Abstract

ATPase, class 1, type 8A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation across the plasma membrane. Pathogenic variants in

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Cite This Study

Flannery et al. (2024) studied this question.

synapsesocial.com/papers/68e6a14db6db6435876252ca https://doi.org/10.1101/2024.05.15.24306843

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes2024 · 4 citations
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