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Strain-dependent effects on neurobehavioral and seizure phenotypes in Scn2a(K1422E) mice
Pathogenic variants in SCN2A are associated with a range of neurodevelopmental disorders (NDD). Despite being largely monogenic, SCN2A-related NDD show considerable phenotypic variation and complex genotype-phenotype correlations. Genetic modifiers can contribute to variability in disease phenotypes...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10274703/ https://www.ncbi.nlm.nih.gov/pubmed/37333275 http://dx.doi.org/10.1101/2023.06.06.543929 |