Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP333.RADgiKTHQ6dX26so5-zC1hdEX96NzzQWkhtEss8ITeQMU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP333.RADgiKTHQ6dX26so5-zC1hdEX96NzzQWkhtEss8ITeQMU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP333.RADgiKTHQ6dX26so5-zC1hdEX96NzzQWkhtEss8ITeQMU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP333.RADgiKTHQ6dX26so5-zC1hdEX96NzzQWkhtEss8ITeQMU130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP333.RADgiKTHQ6dX26so5-zC1hdEX96NzzQWkhtEss8ITeQMU130_provenance.
- NP333.RADgiKTHQ6dX26so5-zC1hdEX96NzzQWkhtEss8ITeQMU130_assertion wasGeneratedBy ECO_0000218 NP333.RADgiKTHQ6dX26so5-zC1hdEX96NzzQWkhtEss8ITeQMU130_provenance.
- NP333.RADgiKTHQ6dX26so5-zC1hdEX96NzzQWkhtEss8ITeQMU130_assertion wasDerivedFrom uniprot-2016 NP333.RADgiKTHQ6dX26so5-zC1hdEX96NzzQWkhtEss8ITeQMU130_provenance.
- NP333.RADgiKTHQ6dX26so5-zC1hdEX96NzzQWkhtEss8ITeQMU130_assertion SIO_000772 10447266 NP333.RADgiKTHQ6dX26so5-zC1hdEX96NzzQWkhtEss8ITeQMU130_provenance.
- NP333.RADgiKTHQ6dX26so5-zC1hdEX96NzzQWkhtEss8ITeQMU130_assertion evidence source_evidence_curated NP333.RADgiKTHQ6dX26so5-zC1hdEX96NzzQWkhtEss8ITeQMU130_provenance.
- NP333.RADgiKTHQ6dX26so5-zC1hdEX96NzzQWkhtEss8ITeQMU130_assertion description "[Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP333.RADgiKTHQ6dX26so5-zC1hdEX96NzzQWkhtEss8ITeQMU130_provenance.