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  • Molecular assay reagents intended to identify gene variants associated with congenital myasthenic syndromes and/or arthrogryposis (i.e., congenital joint contracture). Genetic variants at multiple loci have been associated with congenital myasthenic syndromes and arthrogryposis. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple congenital myasthenic syndrome/arthrogryposis-associated loci simultaneously.
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