Article

Shared and distinct functional effects of patient-specific <i>Tbr1</i> mutations on cortical development

2022-01-28

Abstract excerpt

<h4>SUMMARY</h4> Predicted loss-of-function and missense heterozygous de novo mutations of TBR1 are strongly associated with intellectual disability and autism. The functional effects of these heterogeneous mutations on cortical development and genotype-phenotype relationships have yet to be explored. We characterized mouse models carrying patient mutations A136PfsX80 and K228E, finding convergent and discordan...

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Literature Corpus work: 96466ebb-5c79-5967-b9d6-e2c1df4af384
DOI: 10.1101/2022.01.27.478064

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