@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP648711.RAuHB0J9S4cBpmUQftxsw_PlvwAGeTBFpzh8fR_xZrt_Q
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP648711.RAuHB0J9S4cBpmUQftxsw_PlvwAGeTBFpzh8fR_xZrt_Q130_head
{
this:
np:hasAssertion
dgn-np:NP648711.RAuHB0J9S4cBpmUQftxsw_PlvwAGeTBFpzh8fR_xZrt_Q130_assertion
;
np:hasProvenance
dgn-np:NP648711.RAuHB0J9S4cBpmUQftxsw_PlvwAGeTBFpzh8fR_xZrt_Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP648711.RAuHB0J9S4cBpmUQftxsw_PlvwAGeTBFpzh8fR_xZrt_Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP648711.RAuHB0J9S4cBpmUQftxsw_PlvwAGeTBFpzh8fR_xZrt_Q130_assertion
a
np:Assertion
.
dgn-np:NP648711.RAuHB0J9S4cBpmUQftxsw_PlvwAGeTBFpzh8fR_xZrt_Q130_provenance
a
np:Provenance
.
dgn-np:NP648711.RAuHB0J9S4cBpmUQftxsw_PlvwAGeTBFpzh8fR_xZrt_Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP648711.RAuHB0J9S4cBpmUQftxsw_PlvwAGeTBFpzh8fR_xZrt_Q130_assertion
{
miriam-gene:57216
a
ncit:C16612
.
lld:C0019825
a
ncit:C7057
.
dgn-gda:DGNbdf13aaa88bf402e73792af35269a714
sio:SIO_000628
miriam-gene:57216
,
lld:C0019825
;
a
sio:SIO_001121
.
}
dgn-np:NP648711.RAuHB0J9S4cBpmUQftxsw_PlvwAGeTBFpzh8fR_xZrt_Q130_provenance
{
dgn-np:NP648711.RAuHB0J9S4cBpmUQftxsw_PlvwAGeTBFpzh8fR_xZrt_Q130_assertion
dcterms:description
"[Upturned nose was present in each examined member of the family, short stature and hoarseness in five of the siblings, DSS in four, OLD, inguinal hernia and congested episcleral veins in three, kyphoscoliosis in two, while epicanthus, strabismus, microphthalmos and widely spaced teeth were noted in the deceased female.]. 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:6537946
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP648711.RAuHB0J9S4cBpmUQftxsw_PlvwAGeTBFpzh8fR_xZrt_Q130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:30+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}