http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk130_head
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk130_assertion
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk130_assertion
http://identifiers.org/ncbigene/5873
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612
http://linkedlifedata.com/resource/umls/id/C1868679
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057
http://rdf.disgenet.org/gene-disease-association.ttl#DGN515fa9d16f51bb78a7b7f9c2b1439a2b
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5873
http://rdf.disgenet.org/gene-disease-association.ttl#DGN515fa9d16f51bb78a7b7f9c2b1439a2b
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1868679
http://rdf.disgenet.org/gene-disease-association.ttl#DGN515fa9d16f51bb78a7b7f9c2b1439a2b
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk130_assertion
http://purl.org/dc/terms/description
[We identified a Hispanic patient born of a consanguineous union who presented with immunodeficiency, partial albinism, hepatic dysfunction, hemophagocytosis, neurological impairment, nystagmus, and silvery hair indicative of Griscelli Syndrome Type 2 (GS2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/20591709
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/eco.owl#ECO_0000203
http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225
http://purl.org/pav/2.0/importedOn
2014-02-25
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/eco.owl#ECO_0000212
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations inferred from text-mining the literature.
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk
http://purl.org/dc/terms/created
2014-10-02T12:38:05+02:00
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk
http://purl.org/pav/2.0/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP608107.RA7tFAGzEFIEEec9MeB-gURTDe7fvr2LK2MwP7DiuzNnk
http://purl.org/pav/2.0/version
v2.1.0.0
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://purl.org/pav/2.0/version
v2.1.0