Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP844671.RAlK1eed9Q8Ku0W6d0j0GNaDIBNRhpBRWa70YT3xi0tec130_assertion> ?p ?o ?g. }
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- NP844671.RAlK1eed9Q8Ku0W6d0j0GNaDIBNRhpBRWa70YT3xi0tec130_assertion type Assertion NP844671.RAlK1eed9Q8Ku0W6d0j0GNaDIBNRhpBRWa70YT3xi0tec130_head.
- NP844671.RAlK1eed9Q8Ku0W6d0j0GNaDIBNRhpBRWa70YT3xi0tec130_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." NP844671.RAlK1eed9Q8Ku0W6d0j0GNaDIBNRhpBRWa70YT3xi0tec130_provenance.
- NP844671.RAlK1eed9Q8Ku0W6d0j0GNaDIBNRhpBRWa70YT3xi0tec130_assertion evidence source_evidence_literature NP844671.RAlK1eed9Q8Ku0W6d0j0GNaDIBNRhpBRWa70YT3xi0tec130_provenance.
- NP844671.RAlK1eed9Q8Ku0W6d0j0GNaDIBNRhpBRWa70YT3xi0tec130_assertion SIO_000772 16685652 NP844671.RAlK1eed9Q8Ku0W6d0j0GNaDIBNRhpBRWa70YT3xi0tec130_provenance.
- NP844671.RAlK1eed9Q8Ku0W6d0j0GNaDIBNRhpBRWa70YT3xi0tec130_assertion wasDerivedFrom befree-20140225 NP844671.RAlK1eed9Q8Ku0W6d0j0GNaDIBNRhpBRWa70YT3xi0tec130_provenance.
- NP844671.RAlK1eed9Q8Ku0W6d0j0GNaDIBNRhpBRWa70YT3xi0tec130_assertion wasGeneratedBy ECO_0000203 NP844671.RAlK1eed9Q8Ku0W6d0j0GNaDIBNRhpBRWa70YT3xi0tec130_provenance.