Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP5412.RAvqIOr9WrYDpZMp5kmnnsy42z5BfSyBF8Mr2TFwhhTtk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5412.RAvqIOr9WrYDpZMp5kmnnsy42z5BfSyBF8Mr2TFwhhTtk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5412.RAvqIOr9WrYDpZMp5kmnnsy42z5BfSyBF8Mr2TFwhhTtk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5412.RAvqIOr9WrYDpZMp5kmnnsy42z5BfSyBF8Mr2TFwhhTtk130_provenance.
- NP5412.RAvqIOr9WrYDpZMp5kmnnsy42z5BfSyBF8Mr2TFwhhTtk130_assertion description "[Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5412.RAvqIOr9WrYDpZMp5kmnnsy42z5BfSyBF8Mr2TFwhhTtk130_provenance.
- NP5412.RAvqIOr9WrYDpZMp5kmnnsy42z5BfSyBF8Mr2TFwhhTtk130_assertion evidence source_evidence_curated NP5412.RAvqIOr9WrYDpZMp5kmnnsy42z5BfSyBF8Mr2TFwhhTtk130_provenance.
- NP5412.RAvqIOr9WrYDpZMp5kmnnsy42z5BfSyBF8Mr2TFwhhTtk130_assertion SIO_000772 12531900 NP5412.RAvqIOr9WrYDpZMp5kmnnsy42z5BfSyBF8Mr2TFwhhTtk130_provenance.
- NP5412.RAvqIOr9WrYDpZMp5kmnnsy42z5BfSyBF8Mr2TFwhhTtk130_assertion wasDerivedFrom uniprot-20130724 NP5412.RAvqIOr9WrYDpZMp5kmnnsy42z5BfSyBF8Mr2TFwhhTtk130_provenance.
- NP5412.RAvqIOr9WrYDpZMp5kmnnsy42z5BfSyBF8Mr2TFwhhTtk130_assertion wasGeneratedBy ECO_0000218 NP5412.RAvqIOr9WrYDpZMp5kmnnsy42z5BfSyBF8Mr2TFwhhTtk130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP5412.RAvqIOr9WrYDpZMp5kmnnsy42z5BfSyBF8Mr2TFwhhTtk130_provenance.