Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP701933.RA7DDqsp1hv59OwOOl23zDg0Q8t5RfOl1nmFtlfmxS4AM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP701933.RA7DDqsp1hv59OwOOl23zDg0Q8t5RfOl1nmFtlfmxS4AM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP701933.RA7DDqsp1hv59OwOOl23zDg0Q8t5RfOl1nmFtlfmxS4AM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP701933.RA7DDqsp1hv59OwOOl23zDg0Q8t5RfOl1nmFtlfmxS4AM130_provenance.
- NP701933.RA7DDqsp1hv59OwOOl23zDg0Q8t5RfOl1nmFtlfmxS4AM130_assertion description "[Mutations in the adenosine triphosphate-binding cassette protein ABCB7, identified in XLSA with ataxia (XLSA-A), disrupt the maturation of cytosolic (Fe-S) clusters, leading to mitochondrial Fe accumulation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP701933.RA7DDqsp1hv59OwOOl23zDg0Q8t5RfOl1nmFtlfmxS4AM130_provenance.
- NP701933.RA7DDqsp1hv59OwOOl23zDg0Q8t5RfOl1nmFtlfmxS4AM130_assertion evidence source_evidence_literature NP701933.RA7DDqsp1hv59OwOOl23zDg0Q8t5RfOl1nmFtlfmxS4AM130_provenance.
- NP701933.RA7DDqsp1hv59OwOOl23zDg0Q8t5RfOl1nmFtlfmxS4AM130_assertion SIO_000772 16892088 NP701933.RA7DDqsp1hv59OwOOl23zDg0Q8t5RfOl1nmFtlfmxS4AM130_provenance.
- NP701933.RA7DDqsp1hv59OwOOl23zDg0Q8t5RfOl1nmFtlfmxS4AM130_assertion wasDerivedFrom befree-20140225 NP701933.RA7DDqsp1hv59OwOOl23zDg0Q8t5RfOl1nmFtlfmxS4AM130_provenance.
- NP701933.RA7DDqsp1hv59OwOOl23zDg0Q8t5RfOl1nmFtlfmxS4AM130_assertion wasGeneratedBy ECO_0000203 NP701933.RA7DDqsp1hv59OwOOl23zDg0Q8t5RfOl1nmFtlfmxS4AM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP701933.RA7DDqsp1hv59OwOOl23zDg0Q8t5RfOl1nmFtlfmxS4AM130_provenance.