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Accession IconGSE57802

Transcriptome Profiling of patients with 16p11.2 rearrangements

Organism Icon Homo sapiens
Sample Icon 99 Downloadable Samples
Technology Badge Icon Affymetrix HT HG-U133+ PM Array Plate (hthgu133pluspm)

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Description
The 600kb BP4-BP5 16p11.2 CNV (copy number variant) is associated with neuroanatomical, neurocognitive and metabolic disorders. These recurrent rearrangements are associated with reciprocal phenotypes such as obesity and underweight, macro- and microcephaly, as well as autism spectrum disorder (ASD) and schizophrenia. Here we interrogated the transcriptome of individuals carrying reciprocal CNVs in 16p11.2.
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