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  • Molecular assay reagents intended to identify deletions and duplications in genes associated with pontocerebellar hypoplasia, a collection of brain malformations in which a part of the brainstem (the pons) and the cerebellum are underdeveloped. Genetic variants at multiple loci have been associated with pontocerebellar hypoplasia. These reagents are intended to detect deletions and duplications in multiple pontocerebellar hypoplasia-associated loci simultaneously.
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