@prefix bfo: <
http://purl.obolibrary.org/obo/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo
> .
@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 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/v4.0.0/void/
> .
dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_head
{
this:
np:hasAssertion
dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_assertion
;
np:hasProvenance
dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_provenance
;
np:hasPublicationInfo
dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_assertion
a
np:Assertion
.
dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_provenance
a
np:Provenance
.
dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_assertion
{
miriam-gene:5781
a
ncit:C16612
.
lld:C0028326
a
ncit:C7057
.
dgn-gda:DGN30eadde2ba8ddff17e21e1df193b7d36
sio:SIO_000628
miriam-gene:5781
,
lld:C0028326
;
a
sio:SIO_001121
.
}
dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_provenance
{
dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_assertion
dcterms:description
"[Contrarily, absence of both cutaneous neurofibromas and NS features in her relatives with the same NF1 mutation, suggests that the index patient's typical NFNS phenotype is caused by an additive effect of mutations in both NF1 and PTPN11.]. 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:19449407
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
bfo:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
xsd:date
.
dgn-void:source_evidence_literature
a
bfo:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP739648.RAFn8yp64OPVl4q6NxgCFj3lojclfnGzfD-XcunKgMcMo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:20+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}