@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP776009.RAEfQNUBV0jpz_CEIfGsxXJsmbacHUPMNsXL-i9rAv4g0
> .
@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:NP776009.RAEfQNUBV0jpz_CEIfGsxXJsmbacHUPMNsXL-i9rAv4g0130_head
{
this:
np:hasAssertion
dgn-np:NP776009.RAEfQNUBV0jpz_CEIfGsxXJsmbacHUPMNsXL-i9rAv4g0130_assertion
;
np:hasProvenance
dgn-np:NP776009.RAEfQNUBV0jpz_CEIfGsxXJsmbacHUPMNsXL-i9rAv4g0130_provenance
;
np:hasPublicationInfo
dgn-np:NP776009.RAEfQNUBV0jpz_CEIfGsxXJsmbacHUPMNsXL-i9rAv4g0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP776009.RAEfQNUBV0jpz_CEIfGsxXJsmbacHUPMNsXL-i9rAv4g0130_assertion
a
np:Assertion
.
dgn-np:NP776009.RAEfQNUBV0jpz_CEIfGsxXJsmbacHUPMNsXL-i9rAv4g0130_provenance
a
np:Provenance
.
dgn-np:NP776009.RAEfQNUBV0jpz_CEIfGsxXJsmbacHUPMNsXL-i9rAv4g0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP776009.RAEfQNUBV0jpz_CEIfGsxXJsmbacHUPMNsXL-i9rAv4g0130_assertion
{
miriam-gene:170474
a
ncit:C16612
.
lld:C0220681
a
ncit:C7057
.
dgn-gda:DGNa76f7cdb45359a4e39dfdca634e0c00f
sio:SIO_000628
miriam-gene:170474
,
lld:C0220681
;
a
sio:SIO_001121
.
}
dgn-np:NP776009.RAEfQNUBV0jpz_CEIfGsxXJsmbacHUPMNsXL-i9rAv4g0130_provenance
{
dgn-np:NP776009.RAEfQNUBV0jpz_CEIfGsxXJsmbacHUPMNsXL-i9rAv4g0130_assertion
dcterms:description
"[We describe a patient presenting with developmental delay, patent foramen ovale, moderate short QT interval, and facial dysmorphism including left microtia, preauricular tag and pit, wide left corner of the mouth, and left hemifacial microsomia, fitting with the oculoauriculovertebral spectrum.]. 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:19733267
;
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:NP776009.RAEfQNUBV0jpz_CEIfGsxXJsmbacHUPMNsXL-i9rAv4g0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:50+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" .
}