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Fig. 3 | BMC Medical Genomics

Fig. 3

From: A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia

Fig. 3

The negative effect of this variant on CASK expression. a Western blotting revealed a downregulation in the expression of the CASK protein after mutation. b qPCR revealed that there was no significant difference in the mRNA expression of CASK between the WT and MUT. c Immunofluorescence revealed a downregulation in the expression of the CASK protein after mutation

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