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Accession IconGSE27953

Reduction in nuclear speckles and transcriptome de-regulation in fibroblast of intellectually disabled patients with mutations at the FRAXE site

Organism Icon Homo sapiens
Sample Icon 12 Downloadable Samples
Technology Badge Icon Affymetrix Human Human Exon 1.0 ST Array (huex10st)

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Description
Loss of function of FMR2 due to either hypermethylation of the CpG island as a consequence of the expansion of the CCG repeat near its transcription start site, or internal deletion of FMR2 is considered to be the major cause of FRAXE fragile site associated intellectual disability. FMR2 was shown to be a potent transcription activator as well as an RNA binding protein capable of regulating alternative splicing.
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12
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