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Details


Name WRN
Type somatic mutation
Species Homo sapiens
Tissue fibroblast and lymphoblastoid cell line
Experiment Method qPCR
Up/Down NA
Pro/Anti Pro
Funtion Description Four mutations in WS patients were identified. Two of the mutations are splice-junction mutations, with the predicted result being the exclusion of exons from the final messenger RNA. One of the these mutations, which results in a frameshift and a predict
Regulation Gene WRN
Year 1996
Pubmed ID 8602509
Title Positional cloning of the Werner's syndrome gene.
Drug NA
Disease NA
Environment Factors NA
Circulating NA
Variant somatic mutation
High-throughput NA