Article

A human specific CCG repeat in the <i>RBFOX1</i> promoter is implicated in speech and autism

2026-04-24

Abstract excerpt

Human speech likely arose from regulatory changes for speech-related brain regions, yet causal variants and mechanisms remain unclear. RBFOX1 is a prime candidate, showing specialized expression in vocal learning circuits of human and zebra finch brains and carrying a promoter deletion linked to autism spectrum disorder (ASD) with language dysfunction. Here, we perform integrative analyses with cross-species brai...

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Literature Corpus work: 477ddcdf-6d86-5ad7-bd35-241e6a3bdedf
DOI: 10.64898/2026.04.21.719679

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