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- source_evidence_literature type ECO_0000212 NP612712.RA4DDQ0lfyTeNqc243-nILZok1VIC3ZRhlPfCgtpleSh0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP612712.RA4DDQ0lfyTeNqc243-nILZok1VIC3ZRhlPfCgtpleSh0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP612712.RA4DDQ0lfyTeNqc243-nILZok1VIC3ZRhlPfCgtpleSh0130_provenance.
- NP612712.RA4DDQ0lfyTeNqc243-nILZok1VIC3ZRhlPfCgtpleSh0130_assertion description "[We describe a heterozygous dominant mutation (c.1352G-->A/p.G451E) in POLG2, the gene encoding the p55 accessory subunit of pol gamma , that causes progressive external ophthalmoplegia with multiple mtDNA deletions and cytochrome c oxidase (COX)-deficient muscle fibers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP612712.RA4DDQ0lfyTeNqc243-nILZok1VIC3ZRhlPfCgtpleSh0130_provenance.
- NP612712.RA4DDQ0lfyTeNqc243-nILZok1VIC3ZRhlPfCgtpleSh0130_assertion evidence source_evidence_literature NP612712.RA4DDQ0lfyTeNqc243-nILZok1VIC3ZRhlPfCgtpleSh0130_provenance.
- NP612712.RA4DDQ0lfyTeNqc243-nILZok1VIC3ZRhlPfCgtpleSh0130_assertion SIO_000772 16685652 NP612712.RA4DDQ0lfyTeNqc243-nILZok1VIC3ZRhlPfCgtpleSh0130_provenance.
- NP612712.RA4DDQ0lfyTeNqc243-nILZok1VIC3ZRhlPfCgtpleSh0130_assertion wasDerivedFrom befree-20140225 NP612712.RA4DDQ0lfyTeNqc243-nILZok1VIC3ZRhlPfCgtpleSh0130_provenance.
- NP612712.RA4DDQ0lfyTeNqc243-nILZok1VIC3ZRhlPfCgtpleSh0130_assertion wasGeneratedBy ECO_0000203 NP612712.RA4DDQ0lfyTeNqc243-nILZok1VIC3ZRhlPfCgtpleSh0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP612712.RA4DDQ0lfyTeNqc243-nILZok1VIC3ZRhlPfCgtpleSh0130_provenance.