Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP912655.RAli8IbY0zCvTmVdvsDOMMoL6iyoC347zsP0xm8kvArW0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP912655.RAli8IbY0zCvTmVdvsDOMMoL6iyoC347zsP0xm8kvArW0130_assertion type Assertion NP912655.RAli8IbY0zCvTmVdvsDOMMoL6iyoC347zsP0xm8kvArW0130_head.
- NP912655.RAli8IbY0zCvTmVdvsDOMMoL6iyoC347zsP0xm8kvArW0130_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." NP912655.RAli8IbY0zCvTmVdvsDOMMoL6iyoC347zsP0xm8kvArW0130_provenance.
- NP912655.RAli8IbY0zCvTmVdvsDOMMoL6iyoC347zsP0xm8kvArW0130_assertion evidence source_evidence_literature NP912655.RAli8IbY0zCvTmVdvsDOMMoL6iyoC347zsP0xm8kvArW0130_provenance.
- NP912655.RAli8IbY0zCvTmVdvsDOMMoL6iyoC347zsP0xm8kvArW0130_assertion SIO_000772 16685652 NP912655.RAli8IbY0zCvTmVdvsDOMMoL6iyoC347zsP0xm8kvArW0130_provenance.
- NP912655.RAli8IbY0zCvTmVdvsDOMMoL6iyoC347zsP0xm8kvArW0130_assertion wasDerivedFrom befree-20140225 NP912655.RAli8IbY0zCvTmVdvsDOMMoL6iyoC347zsP0xm8kvArW0130_provenance.
- NP912655.RAli8IbY0zCvTmVdvsDOMMoL6iyoC347zsP0xm8kvArW0130_assertion wasGeneratedBy ECO_0000203 NP912655.RAli8IbY0zCvTmVdvsDOMMoL6iyoC347zsP0xm8kvArW0130_provenance.