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  • Molecular assay reagents intended to identify deletions or duplications of the SMAD family member 4 (SMAD4) gene, located at chromosome 18q21.2, which encodes the protein mothers against decapentaplegic homolog 4. Genetic variants at this locus have been associated with juvenile polyposis syndrome, juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome, pancreatic cancer.
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