Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3

OBJECTIVE: We tested the assumption that closely related genes should have similar pathogenic variants by analyzing >200 pathogenic variants in a gene family with high neurologic impact and high sequence identity, the Na,K-ATPases ATP1A1, ATP1A2, and ATP1A3. METHODS: Data sets of disease-associat...

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Detalles Bibliográficos
Autores principales: Sweadner, Kathleen J., Arystarkhova, Elena, Penniston, John T., Swoboda, Kathryn J., Brashear, Allison, Ozelius, Laurie J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384024/
https://www.ncbi.nlm.nih.gov/pubmed/30842972
http://dx.doi.org/10.1212/NXG.0000000000000303

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384024/
https://www.ncbi.nlm.nih.gov/pubmed/30842972
http://dx.doi.org/10.1212/NXG.0000000000000303

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