Article

<i>Tsc1</i> haploinsufficiency leads to <i>Pax2</i> dysregulation in the developing murine cerebellum

2021-12-08

Abstract excerpt

Tuberous sclerosis complex 1 ( TSC1 ) is a tumour suppressor gene that inhibits the mechanistic target of rapamycin (mTOR) pathway. Mutations in TSC1 lead to a rare complex disorder of the same name, in which up to 50% of patients present with autism spectrum disorder (ASD). ASD is a highly prevalent, early-onset neurodevelopmental disorder, characterized by social deficits and repetitive behaviours, although th...

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Literature Corpus work: f75b87c0-99eb-5309-ad3f-ea422248d04d
DOI: 10.1101/2021.12.08.471768

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