De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
Article in Genetics in Medicine (January 2024)
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Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants
Preprint in bioRxiv (July 2023)
A novel human cellular model of CDA IV enables comprehensive analysis revealing the molecular basis of the disease phenotype
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