@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP586467.RALUXZ9R3PznegMlrDGUChoHQLQtRKfHCSPdlaVnUvdNM
> .
@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:NP586467.RALUXZ9R3PznegMlrDGUChoHQLQtRKfHCSPdlaVnUvdNM130_head
{
this:
np:hasAssertion
dgn-np:NP586467.RALUXZ9R3PznegMlrDGUChoHQLQtRKfHCSPdlaVnUvdNM130_assertion
;
np:hasProvenance
dgn-np:NP586467.RALUXZ9R3PznegMlrDGUChoHQLQtRKfHCSPdlaVnUvdNM130_provenance
;
np:hasPublicationInfo
dgn-np:NP586467.RALUXZ9R3PznegMlrDGUChoHQLQtRKfHCSPdlaVnUvdNM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP586467.RALUXZ9R3PznegMlrDGUChoHQLQtRKfHCSPdlaVnUvdNM130_assertion
a
np:Assertion
.
dgn-np:NP586467.RALUXZ9R3PznegMlrDGUChoHQLQtRKfHCSPdlaVnUvdNM130_provenance
a
np:Provenance
.
dgn-np:NP586467.RALUXZ9R3PznegMlrDGUChoHQLQtRKfHCSPdlaVnUvdNM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP586467.RALUXZ9R3PznegMlrDGUChoHQLQtRKfHCSPdlaVnUvdNM130_assertion
{
miriam-gene:2316
a
ncit:C16612
.
lld:C0034067
a
ncit:C7057
.
dgn-gda:DGN30ff461216157c3dcd415e7e330da73c
sio:SIO_000628
miriam-gene:2316
,
lld:C0034067
;
a
sio:SIO_001121
.
}
dgn-np:NP586467.RALUXZ9R3PznegMlrDGUChoHQLQtRKfHCSPdlaVnUvdNM130_provenance
{
dgn-np:NP586467.RALUXZ9R3PznegMlrDGUChoHQLQtRKfHCSPdlaVnUvdNM130_assertion
dcterms:description
"[Our patient has a FLNA missense mutation (c.220G > A) and presented with cerebral periventricular nodular heterotopia, cardiovascular abnormalities, and pulmonary disease consisting of lobar emphysema of the right middle pulmonary lobe with severe malacia of the right sided bronchus intermedius.]. 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:21194575
;
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:NP586467.RALUXZ9R3PznegMlrDGUChoHQLQtRKfHCSPdlaVnUvdNM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:53+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" .
}