@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP898478.RA8E_XA6T3i4sC7WI-x3-xtyUHnIUGFQRPrTeAF_0jMwo
> .
@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:NP898478.RA8E_XA6T3i4sC7WI-x3-xtyUHnIUGFQRPrTeAF_0jMwo130_head
{
this:
np:hasAssertion
dgn-np:NP898478.RA8E_XA6T3i4sC7WI-x3-xtyUHnIUGFQRPrTeAF_0jMwo130_assertion
;
np:hasProvenance
dgn-np:NP898478.RA8E_XA6T3i4sC7WI-x3-xtyUHnIUGFQRPrTeAF_0jMwo130_provenance
;
np:hasPublicationInfo
dgn-np:NP898478.RA8E_XA6T3i4sC7WI-x3-xtyUHnIUGFQRPrTeAF_0jMwo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP898478.RA8E_XA6T3i4sC7WI-x3-xtyUHnIUGFQRPrTeAF_0jMwo130_assertion
a
np:Assertion
.
dgn-np:NP898478.RA8E_XA6T3i4sC7WI-x3-xtyUHnIUGFQRPrTeAF_0jMwo130_provenance
a
np:Provenance
.
dgn-np:NP898478.RA8E_XA6T3i4sC7WI-x3-xtyUHnIUGFQRPrTeAF_0jMwo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP898478.RA8E_XA6T3i4sC7WI-x3-xtyUHnIUGFQRPrTeAF_0jMwo130_assertion
{
miriam-gene:5894
a
ncit:C16612
.
lld:C1328931
a
ncit:C7057
.
dgn-gda:DGNc51c532ec8f5bd61862432b2181f17b4
sio:SIO_000628
miriam-gene:5894
,
lld:C1328931
;
a
sio:SIO_001121
.
}
dgn-np:NP898478.RA8E_XA6T3i4sC7WI-x3-xtyUHnIUGFQRPrTeAF_0jMwo130_provenance
{
dgn-np:NP898478.RA8E_XA6T3i4sC7WI-x3-xtyUHnIUGFQRPrTeAF_0jMwo130_assertion
dcterms:description
"[Recently, mutations in RAF1 have been also identified in patients with NS and two patients with LEOPARD (multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) syndrome.]. 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:20052757
;
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:NP898478.RA8E_XA6T3i4sC7WI-x3-xtyUHnIUGFQRPrTeAF_0jMwo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:12+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" .
}