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De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

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NIAID Data Ecosystem2026-03-13 收录
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https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE189065
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Main purpose of the project is to investigate the consequences of de novo CSNK2B variant on transcriptome profiling of the patient compared to control. In this data, we seen differential expression of genes involved in the Wnt signaling pathway and transcription regulator. We propose that the investigated variant disturb the canonical Wnt signaling pathway.
创建时间:
2022-05-26
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