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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2019
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| Materias: | |
| 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 |