Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_provenance.
- NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_assertion description "[Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_provenance.
- NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_assertion evidence source_evidence_literature NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_provenance.
- NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_assertion SIO_000772 10971344 NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_provenance.
- NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_assertion wasDerivedFrom befree-20140225 NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_provenance.
- NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_assertion wasGeneratedBy ECO_0000203 NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP604950.RAatdGc-PzXdAn8B9AfWoLJBQWNXcihsapZtU4y2AbSs0130_provenance.