@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP646463.RA-YKy8EO-_-kia7gpoIDcGopz6c3vlVj-8iw6bu5yt10
> .
@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:NP646463.RA-YKy8EO-_-kia7gpoIDcGopz6c3vlVj-8iw6bu5yt10130_head
{
this:
np:hasAssertion
dgn-np:NP646463.RA-YKy8EO-_-kia7gpoIDcGopz6c3vlVj-8iw6bu5yt10130_assertion
;
np:hasProvenance
dgn-np:NP646463.RA-YKy8EO-_-kia7gpoIDcGopz6c3vlVj-8iw6bu5yt10130_provenance
;
np:hasPublicationInfo
dgn-np:NP646463.RA-YKy8EO-_-kia7gpoIDcGopz6c3vlVj-8iw6bu5yt10130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP646463.RA-YKy8EO-_-kia7gpoIDcGopz6c3vlVj-8iw6bu5yt10130_assertion
a
np:Assertion
.
dgn-np:NP646463.RA-YKy8EO-_-kia7gpoIDcGopz6c3vlVj-8iw6bu5yt10130_provenance
a
np:Provenance
.
dgn-np:NP646463.RA-YKy8EO-_-kia7gpoIDcGopz6c3vlVj-8iw6bu5yt10130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP646463.RA-YKy8EO-_-kia7gpoIDcGopz6c3vlVj-8iw6bu5yt10130_assertion
{
miriam-gene:5609
a
ncit:C16612
.
lld:C1275081
a
ncit:C7057
.
dgn-gda:DGNd91ffafd64aedb71a24d60d6225c251a
sio:SIO_000628
miriam-gene:5609
,
lld:C1275081
;
a
sio:SIO_001122
.
}
dgn-np:NP646463.RA-YKy8EO-_-kia7gpoIDcGopz6c3vlVj-8iw6bu5yt10130_provenance
{
dgn-np:NP646463.RA-YKy8EO-_-kia7gpoIDcGopz6c3vlVj-8iw6bu5yt10130_assertion
dcterms:description
"[Based on these clinical differences we suggest that patients with BRAF and MEK mutations should be diagnosed with CFC syndrome, and the diagnosis of Costello syndrome be reserved for patients with HRAS mutations.]. 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:17551924
;
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:NP646463.RA-YKy8EO-_-kia7gpoIDcGopz6c3vlVj-8iw6bu5yt10130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:44:08+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" .
}