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Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-32053-6
Abstract: Recurrent de novo variants in the TBR1 transcription factor are implicated in the etiology of sporadic autism spectrum disorders (ASD). Disruptions include missense variants located in the T-box DNA-binding domain and previous work has demonstrated…
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Keywords:
tbr1 variants;
functional characterization;
protein function;
tbr1 ... See more keywords