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GINS3 fibroblast RNAseq

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NIAID Data Ecosystem2026-03-13 收录
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https://www.omicsdi.org/dataset/ega/EGAS00001006038
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The eukaryotic CDC45/MCM2-7/GINS (CMG) DNA helicase unwinds the DNA double helix during DNA replication. We report the identification of individuals presenting with a Meier-Gorlin syndrome (MGS) like phenotype, secondary to hypomorphic variants in the GINS3 gene.  To verify whether the GINS3 variant affected the transcriptome, RNA-seq was performed from 3 fibroblast cultures derived from a patient with compound heterozygous GINS3 variants, and 1 replicate of fibroblasts derived from each of the two parents.EGA study EGAS00001006038
创建时间:
2022-04-08
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