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Paper Details

19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression.
Clin Genet
12
2012
1, 19p13, Alu, Alu elements, DNA methyltransferase gene, DNMT1, NSD1, NSD1 mutation, Sotos, Sotos syndrome, Sotos-like disorder, blood, buccal cell DNA, duplicated region, enhancer of zeste, facial dysmorphism, genomic disorder, highly, histone methyltransferase, homologous, learning disabilities, microduplication of 19p13, neurocognitive disability, nuclear receptor-binding Su-var, overgrowth, peripheral blood, trithorax domain protein 1

Datasets

Release 1.2