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  • Molecular assay reagents intended to identify variants in the majority of genes known to be associated with rasopathies, a collection of genetic disorders caused by dysfunction in the RAS/mitogen-activated protein kinase (MAPK) pathway and characterized by multiple signs and symptoms including facial abnormalities, developmental delays, cardiac defects, growth delays, neurologic symptoms, and gastrointestinal difficulties. Genetic variants at multiple loci have been associated with rasopathies. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in the majority of rasopathy-associated loci simultaneously.
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