@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc
> .
@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/v3.0.0/void/
> .
dgn-np:NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_head
{
this:
np:hasAssertion
dgn-np:NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_assertion
;
np:hasProvenance
dgn-np:NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_provenance
;
np:hasPublicationInfo
dgn-np:NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_assertion
a
np:Assertion
.
dgn-np:NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_provenance
a
np:Provenance
.
dgn-np:NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_assertion
{
miriam-gene:182
a
ncit:C16612
.
lld:C0039685
a
ncit:C7057
.
dgn-gda:DGN8a3cebe2298a1882a6b81f4bd9e89202
sio:SIO_000628
miriam-gene:182
,
lld:C0039685
;
a
sio:SIO_001122
.
}
dgn-np:NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_provenance
{
dgn-np:NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_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-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP228662.RAiJhRDjp4aZRzU6P6cJDLiTnqxfPNZMn69dYbVSCitAc130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:39:50+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: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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}