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Molecular assay reagents intended to identify deletions and duplications in genes associated with Noonan syndrome, a form of rasopathy characterized by multiple signs and symptoms including unusual facial features, short stature, cardiac defects, bleeding problems, and skeletal abnormalities. Genetic variants at multiple loci have been associated with Noonan syndrome. These reagents are intended to detect deletions and duplications in multiple Noonan syndrome-associated loci simultaneously.
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