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Reference Patent

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  • Search Condition : Filter (MeSH = Malformations of Cortical Development / genetics*)
Species Resource RRC ID Title Journal Published Link
DNA material T7-NLS hCas9-pA (RDB13130) 58490 Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes. Nat Commun 2020-2-26 Pubmed Full text
DNA material pCMV-TUBA1A flag-WT (RDB14140) , pCMV-TUBA1A flag-R64W (RDB14141) , pCMV-TUBA1A flag-C25F (RDB14142) , pCMV-TUBA1A flag-R402C (RDB14143) , pCMV-TUBA1A myc-WT (RDB14144) , pCMV-TUBA1A myc-R64W (RDB14145) , pCMV-TUBA1A myc- C25F (RDB14146) , pCMV-TUBA1A myc- R402C (RDB14147). 36730 TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. Sci Rep 2015-10-23 Pubmed Full text
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