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GINS3 fibroblast RNAseq

ABSTRACT: 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 inÃ¢Â€Â¯the GINS3 gene.Ã¢Â€Â¯Ã¢Â€Â¯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.

PROVIDER: EGAS00001006038 | EGA |

REPOSITORIES: EGA

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