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• W2488766489 abstract "Abstract From a GeneMatcher-enabled international collaboration, we identified ten individuals with intellectual disability, speech delay, ataxia and facial dysmorphism and a mutation in EBF3 , encoding a transcription factor required for neuronal differentiation. Structural assessments, transactivation assays, in situ fractionation, RNA-seq and ChlP-seq experiments collectively show that the mutations are deleterious and impair EBF3 transcriptional regulation. These findings demonstrate that EBF3-mediated dysregulation of gene expression has profound effects on neuronal development in humans." @default.
• W2488766489 created "2016-08-23" @default.
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• W2488766489 date "2016-08-03" @default.
• W2488766489 modified "2023-10-17" @default.
• W2488766489 title "Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism" @default.
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• W2488766489 doi "https://doi.org/10.1101/067454" @default.
• W2488766489 hasPublicationYear "2016" @default.
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