Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6517.RA8ceTnu-2Ruf3REzjI2IefybzgTCfcYj-ZL0dSabkGeo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6517.RA8ceTnu-2Ruf3REzjI2IefybzgTCfcYj-ZL0dSabkGeo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6517.RA8ceTnu-2Ruf3REzjI2IefybzgTCfcYj-ZL0dSabkGeo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6517.RA8ceTnu-2Ruf3REzjI2IefybzgTCfcYj-ZL0dSabkGeo130_provenance.
- NP6517.RA8ceTnu-2Ruf3REzjI2IefybzgTCfcYj-ZL0dSabkGeo130_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." NP6517.RA8ceTnu-2Ruf3REzjI2IefybzgTCfcYj-ZL0dSabkGeo130_provenance.
- NP6517.RA8ceTnu-2Ruf3REzjI2IefybzgTCfcYj-ZL0dSabkGeo130_assertion evidence source_evidence_curated NP6517.RA8ceTnu-2Ruf3REzjI2IefybzgTCfcYj-ZL0dSabkGeo130_provenance.
- NP6517.RA8ceTnu-2Ruf3REzjI2IefybzgTCfcYj-ZL0dSabkGeo130_assertion SIO_000772 14597039 NP6517.RA8ceTnu-2Ruf3REzjI2IefybzgTCfcYj-ZL0dSabkGeo130_provenance.
- NP6517.RA8ceTnu-2Ruf3REzjI2IefybzgTCfcYj-ZL0dSabkGeo130_assertion wasDerivedFrom uniprot-20130724 NP6517.RA8ceTnu-2Ruf3REzjI2IefybzgTCfcYj-ZL0dSabkGeo130_provenance.
- NP6517.RA8ceTnu-2Ruf3REzjI2IefybzgTCfcYj-ZL0dSabkGeo130_assertion wasGeneratedBy ECO_0000218 NP6517.RA8ceTnu-2Ruf3REzjI2IefybzgTCfcYj-ZL0dSabkGeo130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6517.RA8ceTnu-2Ruf3REzjI2IefybzgTCfcYj-ZL0dSabkGeo130_provenance.