@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg
> .
@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:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_head
{
this:
np:hasAssertion
dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_assertion
;
np:hasProvenance
dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_provenance
;
np:hasPublicationInfo
dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_assertion
a
np:Assertion
.
dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_provenance
a
np:Provenance
.
dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_assertion
{
miriam-gene:3845
a
ncit:C16612
.
lld:C1275081
a
ncit:C7057
.
dgn-gda:DGNa8ad3dfc6e325367fbc9c056842062d9
sio:SIO_000628
miriam-gene:3845
,
lld:C1275081
;
a
sio:SIO_001121
.
}
dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_provenance
{
dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_assertion
dcterms:description
"[Mutations in the KRAS gene account for only a small proportion of affected Noonan and CFC syndrome patients that present an intermediate phenotype between these two syndromes, with more frequent and severe intellectual disability in NS and less ectodermal involvement in CFC syndrome, as well as atypical clinical findings such as craniosynostosis.]. 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:22488932
;
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:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:42:52+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" .
}