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PACS1 syndrome variant alters the proteomic landscape of developing cortical organoids

Gomez-Maqueo X et al.
Europe PMC · Papers
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neurodevelopmental-disorderstranscriptome
Patient-derived brain organoids have been used to model NDDs and identify pathogenic mechanisms. While most studies have evaluated the mechanisms by which NDD variants affect the transcriptome, studies examining the proteome remain limited. Here, we examined the effect of the PACS1 p.R203W variant,
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