Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP530820.RAMDjVkYdvPmSW7bJtrsH1pE9e7ang3dqxafxg5wL-7oQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP530820.RAMDjVkYdvPmSW7bJtrsH1pE9e7ang3dqxafxg5wL-7oQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP530820.RAMDjVkYdvPmSW7bJtrsH1pE9e7ang3dqxafxg5wL-7oQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP530820.RAMDjVkYdvPmSW7bJtrsH1pE9e7ang3dqxafxg5wL-7oQ130_provenance.
- NP530820.RAMDjVkYdvPmSW7bJtrsH1pE9e7ang3dqxafxg5wL-7oQ130_assertion wasGeneratedBy ECO_0000203 NP530820.RAMDjVkYdvPmSW7bJtrsH1pE9e7ang3dqxafxg5wL-7oQ130_provenance.
- NP530820.RAMDjVkYdvPmSW7bJtrsH1pE9e7ang3dqxafxg5wL-7oQ130_assertion wasDerivedFrom befree-20140225 NP530820.RAMDjVkYdvPmSW7bJtrsH1pE9e7ang3dqxafxg5wL-7oQ130_provenance.
- NP530820.RAMDjVkYdvPmSW7bJtrsH1pE9e7ang3dqxafxg5wL-7oQ130_assertion SIO_000772 11020419 NP530820.RAMDjVkYdvPmSW7bJtrsH1pE9e7ang3dqxafxg5wL-7oQ130_provenance.
- NP530820.RAMDjVkYdvPmSW7bJtrsH1pE9e7ang3dqxafxg5wL-7oQ130_assertion evidence source_evidence_literature NP530820.RAMDjVkYdvPmSW7bJtrsH1pE9e7ang3dqxafxg5wL-7oQ130_provenance.
- NP530820.RAMDjVkYdvPmSW7bJtrsH1pE9e7ang3dqxafxg5wL-7oQ130_assertion description "[Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of leber hereditary optic neuropathy who showed marked differences in clinical severity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP530820.RAMDjVkYdvPmSW7bJtrsH1pE9e7ang3dqxafxg5wL-7oQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP530820.RAMDjVkYdvPmSW7bJtrsH1pE9e7ang3dqxafxg5wL-7oQ130_provenance.