@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP840785.RA0NAt0V5Hruta9TA3BOGKdMtR14VC7IuaPAQ7sSMeHn0
> .
@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:NP840785.RA0NAt0V5Hruta9TA3BOGKdMtR14VC7IuaPAQ7sSMeHn0130_head
{
this:
np:hasAssertion
dgn-np:NP840785.RA0NAt0V5Hruta9TA3BOGKdMtR14VC7IuaPAQ7sSMeHn0130_assertion
;
np:hasProvenance
dgn-np:NP840785.RA0NAt0V5Hruta9TA3BOGKdMtR14VC7IuaPAQ7sSMeHn0130_provenance
;
np:hasPublicationInfo
dgn-np:NP840785.RA0NAt0V5Hruta9TA3BOGKdMtR14VC7IuaPAQ7sSMeHn0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP840785.RA0NAt0V5Hruta9TA3BOGKdMtR14VC7IuaPAQ7sSMeHn0130_assertion
a
np:Assertion
.
dgn-np:NP840785.RA0NAt0V5Hruta9TA3BOGKdMtR14VC7IuaPAQ7sSMeHn0130_provenance
a
np:Provenance
.
dgn-np:NP840785.RA0NAt0V5Hruta9TA3BOGKdMtR14VC7IuaPAQ7sSMeHn0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP840785.RA0NAt0V5Hruta9TA3BOGKdMtR14VC7IuaPAQ7sSMeHn0130_assertion
{
miriam-gene:182
a
ncit:C16612
.
lld:C0266258
a
ncit:C7057
.
dgn-gda:DGN7a3cd385a0fb3c9bd9855a47f2b78dd3
sio:SIO_000628
miriam-gene:182
,
lld:C0266258
;
a
sio:SIO_001121
.
}
dgn-np:NP840785.RA0NAt0V5Hruta9TA3BOGKdMtR14VC7IuaPAQ7sSMeHn0130_provenance
{
dgn-np:NP840785.RA0NAt0V5Hruta9TA3BOGKdMtR14VC7IuaPAQ7sSMeHn0130_assertion
dcterms:description
"[We have studied a JAG1 missense mutation (JAG1-G274D) that was previously identified in 13 individuals from an extended family with cardiac defects of the type seen in patients with AGS (e.g., peripheral pulmonic stenosis and tetralogy of Fallot) in the absence of liver dysfunction.]. 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:12649809
;
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:NP840785.RA0NAt0V5Hruta9TA3BOGKdMtR14VC7IuaPAQ7sSMeHn0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:34+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" .
}