Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Neurol Genet
Autors principals: Sweadner, Kathleen J., Arystarkhova, Elena, Penniston, John T., Swoboda, Kathryn J., Brashear, Allison, Ozelius, Laurie J.
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer 2019
Matèries:
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!