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Molecular assay reagents intended to identify gene variants 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 various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple Noonan syndrome-associated loci simultaneously.
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