Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_provenance.
- NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_assertion description "[A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_provenance.
- NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_assertion evidence source_evidence_curated NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_provenance.
- NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_assertion SIO_000772 14597039 NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_provenance.
- NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_assertion wasDerivedFrom uniprot-2016 NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_provenance.
- NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_assertion wasGeneratedBy ECO_0000218 NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_provenance.