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  • Molecular assay reagents intended to identify mutations in the protein O-mannose N-acetylglucosaminyltransferase 1 (POMGnT1) gene, located at chromosome 1p34.1, which encodes for a protein involved in o-mannosyl glycan synthesis. Mutations at this locus have been identified in patients with muscle-eye-brain muscular dystrophy (MEB), ocular abnormalities, and brain malformation.
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