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  • Writer's pictureShinya Yamamoto

Functional study of rare genetic variants identified in autistic individuals using Drosophila

By studying 79 de novo missense variants identified in individual with autism spectrum disorders in flies through rescue and overexpression based strategies, we found 38% of them to have strong functional consequences. We further focused on one of the genes, GLRA2, and found rare variants in this gene to be the cause of neurodevelopment phenotypes in 13 individuals.



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