Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP645951.RAr067QXi9o0uDTdSnsS8hl1QxHlQ5JMYETUG0X3IvqvM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP645951.RAr067QXi9o0uDTdSnsS8hl1QxHlQ5JMYETUG0X3IvqvM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP645951.RAr067QXi9o0uDTdSnsS8hl1QxHlQ5JMYETUG0X3IvqvM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP645951.RAr067QXi9o0uDTdSnsS8hl1QxHlQ5JMYETUG0X3IvqvM130_provenance.
- NP645951.RAr067QXi9o0uDTdSnsS8hl1QxHlQ5JMYETUG0X3IvqvM130_assertion description "[Griscelli syndrome type 2 is a rare autosomal recessive primary immunodeficiency disease caused by a mutation in the RAB27A gene and characterized by oculocutaneous hypopigmentation and variable cellular immunodeficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP645951.RAr067QXi9o0uDTdSnsS8hl1QxHlQ5JMYETUG0X3IvqvM130_provenance.
- NP645951.RAr067QXi9o0uDTdSnsS8hl1QxHlQ5JMYETUG0X3IvqvM130_assertion evidence source_evidence_literature NP645951.RAr067QXi9o0uDTdSnsS8hl1QxHlQ5JMYETUG0X3IvqvM130_provenance.
- NP645951.RAr067QXi9o0uDTdSnsS8hl1QxHlQ5JMYETUG0X3IvqvM130_assertion SIO_000772 21314004 NP645951.RAr067QXi9o0uDTdSnsS8hl1QxHlQ5JMYETUG0X3IvqvM130_provenance.
- NP645951.RAr067QXi9o0uDTdSnsS8hl1QxHlQ5JMYETUG0X3IvqvM130_assertion wasDerivedFrom befree-20140225 NP645951.RAr067QXi9o0uDTdSnsS8hl1QxHlQ5JMYETUG0X3IvqvM130_provenance.
- NP645951.RAr067QXi9o0uDTdSnsS8hl1QxHlQ5JMYETUG0X3IvqvM130_assertion wasGeneratedBy ECO_0000203 NP645951.RAr067QXi9o0uDTdSnsS8hl1QxHlQ5JMYETUG0X3IvqvM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP645951.RAr067QXi9o0uDTdSnsS8hl1QxHlQ5JMYETUG0X3IvqvM130_provenance.