Title : De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.

Pub. Date : 2014 Jun

PMID : 24668897






2 Functional Relationships(s)
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1 Array comparative genomic hybridization (array CGH) detected a 3.2 Mb duplication of 17p13.1-p13.2 encompassing TP53, FXR2, NLGN2, and SLC2A4, which encodes the insulin-responsive glucose transporter 4 (GLUT4) associated with insulin-stimulated glucose uptake in adipocytes and muscle. Glucose tumor protein p53 Homo sapiens
2 Array comparative genomic hybridization (array CGH) detected a 3.2 Mb duplication of 17p13.1-p13.2 encompassing TP53, FXR2, NLGN2, and SLC2A4, which encodes the insulin-responsive glucose transporter 4 (GLUT4) associated with insulin-stimulated glucose uptake in adipocytes and muscle. Glucose tumor protein p53 Homo sapiens