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Autism patient derived SHANK2BY29X mutation affects ALDH1A1 negative dopamine neuron development

GSE256210 Mus musculus; Homo sapiens Expression profiling by high throughput sequencing 8 samples Submitted 2024/05/01 Platform GPL18573Platform GPL19057
Summary
Autism spectrum disorder (ASD) includes a series of neurodevelopmental conditions. Different mutations on a single ASD gene contribute to heterogeneous disease phenotypes, possibly due to functional diversity of generated isoforms. Increasing evidence indicates such phenomenon in SHANK2, a causative gene in ASD; however, there is a scarcity of tools for studying endogenous SHANK2 proteins in an isoform-specific manner. Here we reported a patient-derived mutation on SHANK2, hitting only the SHANK2B transcript variant (NM_133266.5), hereby SHANK2BY29X.
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Also filed as BioProject PRJNA1078417 and SRA study SRP490672. Searching any of these in the dataset finder brings you back here.

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