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SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder.
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Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
2024
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Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.
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Genome-wide analyses of vocabulary size in infancy and toddlerhood: associations with Attention-Deficit/Hyperactivity Disorder and cognition-related traits.
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