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  • Molecular assay reagents intended to identify gene variants associated with septo-optic dysplasia, a brain development disorder characterized by optic nerve hypoplasia, brain midline abnormalities (e.g., septum pellucidum hypoplasia), and pituitary hypoplasia. Genetic variants at multiple loci have been associated with septo-optic dysplasia. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple septo-optic dysplasia-associated loci simultaneously.
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