Articles with "tbr1 variants" as a keyword



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Functional characterization of TBR1 variants in neurodevelopmental disorder

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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… read more here.

Keywords: tbr1 variants; functional characterization; protein function; tbr1 ... See more keywords