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Disease Models & Mechanisms
(Jun 2024)
Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases
Eli Matsell,
Jens Peter Andersen,
Robert S. Molday
Affiliations
Eli Matsell
Department of Biochemistry & Molecular Biology, University of British Columbia, Vancouver, British Columbia V6T 1Z3, Canada
Jens Peter Andersen
Department of Biomedicine, Aarhus University, 8000 Aarhus, Denmark
Robert S. Molday
Department of Biochemistry & Molecular Biology, University of British Columbia, Vancouver, British Columbia V6T 1Z3, Canada
DOI
https://doi.org/10.1242/dmm.050546
Journal volume & issue
Vol. 17, no. 6
Abstract
Read online
No abstracts available.
Keywords
in silico protein stability
missense mutations
neurodevelopmental disease
p4-atpases
protein misfolding
disease mechanisms
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