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  • Molecular assay reagents intended to identify gene variants associated with Bernard-Soulier syndrome, a platelet-type bleeding disorder caused by a defect in the platelet-expressed glycoprotein von Willebrand factor receptor. Genetic variants at multiple loci have been associated with Bernard-Soulier syndrome. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple Bernard-Soulier syndrome-associated loci simultaneously.
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