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  • Molecular assay reagents intended to identify deletions or duplications of the ribonucleotide reductase regulatory TP53 inducible subunit M2B (RRM2B) gene, located at chromosome 8q22.3, which encodes the protein ribonucleoside-diphosphate reductase subunit M2 B. Genetic variants at this locus have been associated with progressive external ophthalmoplegia with mitochondrial DNA deletions and mitochondrial DNA depletion syndrome.
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