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Molecular assay reagents intended to identify gene variants associated with Joubert syndrome, a collection of brain malformations affecting the brainstem and the cerebellar vermis. Genetic variants at multiple loci have been associated with Joubert syndrome. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple Joubert syndrome-associated loci simultaneously.
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