Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP288799.RAQVU8Vpk4e7MtElAZAA_HhlHifzkt0qJbvFNVSETEV2g130_assertion> ?p ?o ?g. }
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- NP288799.RAQVU8Vpk4e7MtElAZAA_HhlHifzkt0qJbvFNVSETEV2g130_assertion type Assertion NP288799.RAQVU8Vpk4e7MtElAZAA_HhlHifzkt0qJbvFNVSETEV2g130_head.
- NP288799.RAQVU8Vpk4e7MtElAZAA_HhlHifzkt0qJbvFNVSETEV2g130_assertion wasGeneratedBy ECO_0000203 NP288799.RAQVU8Vpk4e7MtElAZAA_HhlHifzkt0qJbvFNVSETEV2g130_provenance.
- NP288799.RAQVU8Vpk4e7MtElAZAA_HhlHifzkt0qJbvFNVSETEV2g130_assertion wasDerivedFrom befree-20140225 NP288799.RAQVU8Vpk4e7MtElAZAA_HhlHifzkt0qJbvFNVSETEV2g130_provenance.
- NP288799.RAQVU8Vpk4e7MtElAZAA_HhlHifzkt0qJbvFNVSETEV2g130_assertion SIO_000772 19805825 NP288799.RAQVU8Vpk4e7MtElAZAA_HhlHifzkt0qJbvFNVSETEV2g130_provenance.
- NP288799.RAQVU8Vpk4e7MtElAZAA_HhlHifzkt0qJbvFNVSETEV2g130_assertion evidence source_evidence_literature NP288799.RAQVU8Vpk4e7MtElAZAA_HhlHifzkt0qJbvFNVSETEV2g130_provenance.
- NP288799.RAQVU8Vpk4e7MtElAZAA_HhlHifzkt0qJbvFNVSETEV2g130_assertion description "[Mutations in the nuclear SURF-1 gene lead directly to cytochrome-c oxidase deficiency, the most common respiratory chain defect in Leigh syndrome, a neurodegenerative mitochondrial disease involving the deep gray matter and brain stem.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP288799.RAQVU8Vpk4e7MtElAZAA_HhlHifzkt0qJbvFNVSETEV2g130_provenance.