@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1292617.RAmq-9s36W5elFWiRKfKp-ZjWbt3_LNAhqQ8SCT64uZVo
> .
@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:NP1292617.RAmq-9s36W5elFWiRKfKp-ZjWbt3_LNAhqQ8SCT64uZVo130_head
{
this:
np:hasAssertion
dgn-np:NP1292617.RAmq-9s36W5elFWiRKfKp-ZjWbt3_LNAhqQ8SCT64uZVo130_assertion
;
np:hasProvenance
dgn-np:NP1292617.RAmq-9s36W5elFWiRKfKp-ZjWbt3_LNAhqQ8SCT64uZVo130_provenance
;
np:hasPublicationInfo
dgn-np:NP1292617.RAmq-9s36W5elFWiRKfKp-ZjWbt3_LNAhqQ8SCT64uZVo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1292617.RAmq-9s36W5elFWiRKfKp-ZjWbt3_LNAhqQ8SCT64uZVo130_assertion
a
np:Assertion
.
dgn-np:NP1292617.RAmq-9s36W5elFWiRKfKp-ZjWbt3_LNAhqQ8SCT64uZVo130_provenance
a
np:Provenance
.
dgn-np:NP1292617.RAmq-9s36W5elFWiRKfKp-ZjWbt3_LNAhqQ8SCT64uZVo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1292617.RAmq-9s36W5elFWiRKfKp-ZjWbt3_LNAhqQ8SCT64uZVo130_assertion
{
miriam-gene:5159
a
ncit:C16612
.
lld:C0349204
a
ncit:C7057
.
dgn-gda:DGN29921e7b07b54bcccc90f4e49741d269
sio:SIO_000628
miriam-gene:5159
,
lld:C0349204
;
a
sio:SIO_001121
.
}
dgn-np:NP1292617.RAmq-9s36W5elFWiRKfKp-ZjWbt3_LNAhqQ8SCT64uZVo130_provenance
{
dgn-np:NP1292617.RAmq-9s36W5elFWiRKfKp-ZjWbt3_LNAhqQ8SCT64uZVo130_assertion
dcterms:description
"[Distinct mutations in PDGFRB have been shown to cause infantile myofibromatosis, idiopathic basal ganglia calcification, and an overgrowth disorder with dysmorphic facies and psychosis, none of which overlaps with the clinical findings in Penttinen syndrome.]. 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:26279204
;
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:NP1292617.RAmq-9s36W5elFWiRKfKp-ZjWbt3_LNAhqQ8SCT64uZVo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:32+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" .
}