Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases
Title: | Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases |
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Authors: | Eli Matsell, Jens Peter Andersen, Robert S. Molday |
Source: | Disease Models & Mechanisms, Vol 17, Iss 6 (2024) |
Publisher Information: | The Company of Biologists, 2024. |
Publication Year: | 2024 |
Collection: | LCC:Medicine LCC:Pathology |
Subject Terms: | in silico protein stability, missense mutations, neurodevelopmental disease, p4-atpases, protein misfolding, disease mechanisms, Medicine, Pathology, RB1-214 |
Document Type: | article |
File Description: | electronic resource |
Language: | English |
ISSN: | 1754-8403 1754-8411 |
Relation: | http://dmm.biologists.org/content/17/6/dmm050546; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411 |
DOI: | 10.1242/dmm.050546 |
Access URL: | https://doaj.org/article/f1839c52564b4545b4c39bc282eef3e1 |
Accession Number: | edsdoj.f1839c52564b4545b4c39bc282eef3e1 |
Database: | Directory of Open Access Journals |
ISSN: | 17548403 17548411 |
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DOI: | 10.1242/dmm.050546 |
Published in: | Disease Models & Mechanisms |
Language: | English |