Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_provenance.
- NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_assertion wasGeneratedBy ECO_0000203 NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_provenance.
- NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_assertion wasDerivedFrom befree-20150227 NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_provenance.
- NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_assertion SIO_000772 10401000 NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_provenance.
- NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_assertion evidence source_evidence_literature NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_provenance.
- NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_assertion description "[Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently severely affected patient previously shown to carry the protoporphyrinogen oxidase ( PPOX ) gene mutation R59W, which accounts for dominantly inherited variegate porphyria (VP) in >80% of affected South Africans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_provenance.