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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...
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| Pubblicato in: | Neurol Genet |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Wolters Kluwer
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6384024/ https://ncbi.nlm.nih.gov/pubmed/30842972 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000303 |
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