Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6020.RAASPPhFgyipsx0zmimktWDrW0CXD42JcNR3oL2jfPIy4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6020.RAASPPhFgyipsx0zmimktWDrW0CXD42JcNR3oL2jfPIy4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6020.RAASPPhFgyipsx0zmimktWDrW0CXD42JcNR3oL2jfPIy4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6020.RAASPPhFgyipsx0zmimktWDrW0CXD42JcNR3oL2jfPIy4130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6020.RAASPPhFgyipsx0zmimktWDrW0CXD42JcNR3oL2jfPIy4130_provenance.
- NP6020.RAASPPhFgyipsx0zmimktWDrW0CXD42JcNR3oL2jfPIy4130_assertion wasGeneratedBy ECO_0000218 NP6020.RAASPPhFgyipsx0zmimktWDrW0CXD42JcNR3oL2jfPIy4130_provenance.
- NP6020.RAASPPhFgyipsx0zmimktWDrW0CXD42JcNR3oL2jfPIy4130_assertion wasDerivedFrom uniprot-2016 NP6020.RAASPPhFgyipsx0zmimktWDrW0CXD42JcNR3oL2jfPIy4130_provenance.
- NP6020.RAASPPhFgyipsx0zmimktWDrW0CXD42JcNR3oL2jfPIy4130_assertion SIO_000772 19954729 NP6020.RAASPPhFgyipsx0zmimktWDrW0CXD42JcNR3oL2jfPIy4130_provenance.
- NP6020.RAASPPhFgyipsx0zmimktWDrW0CXD42JcNR3oL2jfPIy4130_assertion evidence source_evidence_curated NP6020.RAASPPhFgyipsx0zmimktWDrW0CXD42JcNR3oL2jfPIy4130_provenance.
- NP6020.RAASPPhFgyipsx0zmimktWDrW0CXD42JcNR3oL2jfPIy4130_assertion description "[A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6020.RAASPPhFgyipsx0zmimktWDrW0CXD42JcNR3oL2jfPIy4130_provenance.