@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP361816.RAfuUJ_PhyKJ_7NYPTXQqBD22uDUaJ1xvhVWdh5bFSIZk
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP361816.RAfuUJ_PhyKJ_7NYPTXQqBD22uDUaJ1xvhVWdh5bFSIZk130_head
{
this:
np:hasAssertion
dgn-np:NP361816.RAfuUJ_PhyKJ_7NYPTXQqBD22uDUaJ1xvhVWdh5bFSIZk130_assertion
;
np:hasProvenance
dgn-np:NP361816.RAfuUJ_PhyKJ_7NYPTXQqBD22uDUaJ1xvhVWdh5bFSIZk130_provenance
;
np:hasPublicationInfo
dgn-np:NP361816.RAfuUJ_PhyKJ_7NYPTXQqBD22uDUaJ1xvhVWdh5bFSIZk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP361816.RAfuUJ_PhyKJ_7NYPTXQqBD22uDUaJ1xvhVWdh5bFSIZk130_assertion
a
np:Assertion
.
dgn-np:NP361816.RAfuUJ_PhyKJ_7NYPTXQqBD22uDUaJ1xvhVWdh5bFSIZk130_provenance
a
np:Provenance
.
dgn-np:NP361816.RAfuUJ_PhyKJ_7NYPTXQqBD22uDUaJ1xvhVWdh5bFSIZk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP361816.RAfuUJ_PhyKJ_7NYPTXQqBD22uDUaJ1xvhVWdh5bFSIZk130_assertion
{
miriam-gene:3257
a
ncit:C16612
.
lld:C0242994
a
ncit:C7057
.
dgn-gda:DGNd75050dc79f585f4575f704926e0b632
sio:SIO_000628
miriam-gene:3257
,
lld:C0242994
;
a
sio:SIO_001121
.
}
dgn-np:NP361816.RAfuUJ_PhyKJ_7NYPTXQqBD22uDUaJ1xvhVWdh5bFSIZk130_provenance
{
dgn-np:NP361816.RAfuUJ_PhyKJ_7NYPTXQqBD22uDUaJ1xvhVWdh5bFSIZk130_assertion
dcterms:description
"[All types of HPS are diagnosed by whole mount electron microscopic demonstration of absent platelet dense bodies, and molecular diagnoses are available for the Puerto Rican HPS1 and HPS3 founder mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:12125811
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP361816.RAfuUJ_PhyKJ_7NYPTXQqBD22uDUaJ1xvhVWdh5bFSIZk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:29+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}