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Article

Shared and Distinct Functional Effects of Patient-Specific Tbr1 Mutations on Cortical Development.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 14 Sept 2022

Co Marissa, Barnard Rebecca A, Jahncke Jennifer N, Grindstaff Sally, Fedorov Lev M, Adey Andrew C, Wright Kevin M, O'Roak Brian J

Abstract excerpt

T-Box Brain Transcription Factor 1 (TBR1) plays essential roles in brain development, mediating neuronal migration, fate specification, and axon tract formation. While heterozygous loss-of-function and missense TBR1 mutations are associated with neurodevelopmental conditions, the effects of these heterogeneous mutations on brain development have yet to be fully explored. We characterized multiple mouse lines...

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Identifiers

PMID: 35944998
DOI: 10.1523/JNEUROSCI.0409-22.2022
PMCID: PMC9480892

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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