@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP588313.RAKaLg6i_gLCd9jACxZdD6qakALNKwSKeDEj6bAmdAl-Q
> .
@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:NP588313.RAKaLg6i_gLCd9jACxZdD6qakALNKwSKeDEj6bAmdAl-Q130_head
{
this:
np:hasAssertion
dgn-np:NP588313.RAKaLg6i_gLCd9jACxZdD6qakALNKwSKeDEj6bAmdAl-Q130_assertion
;
np:hasProvenance
dgn-np:NP588313.RAKaLg6i_gLCd9jACxZdD6qakALNKwSKeDEj6bAmdAl-Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP588313.RAKaLg6i_gLCd9jACxZdD6qakALNKwSKeDEj6bAmdAl-Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP588313.RAKaLg6i_gLCd9jACxZdD6qakALNKwSKeDEj6bAmdAl-Q130_assertion
a
np:Assertion
.
dgn-np:NP588313.RAKaLg6i_gLCd9jACxZdD6qakALNKwSKeDEj6bAmdAl-Q130_provenance
a
np:Provenance
.
dgn-np:NP588313.RAKaLg6i_gLCd9jACxZdD6qakALNKwSKeDEj6bAmdAl-Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP588313.RAKaLg6i_gLCd9jACxZdD6qakALNKwSKeDEj6bAmdAl-Q130_assertion
{
miriam-gene:4763
a
ncit:C16612
.
lld:C0263214
a
ncit:C7057
.
dgn-gda:DGN368699cf275fc65cc872cfa2bfd4c474
sio:SIO_000628
miriam-gene:4763
,
lld:C0263214
;
a
sio:SIO_001121
.
}
dgn-np:NP588313.RAKaLg6i_gLCd9jACxZdD6qakALNKwSKeDEj6bAmdAl-Q130_provenance
{
dgn-np:NP588313.RAKaLg6i_gLCd9jACxZdD6qakALNKwSKeDEj6bAmdAl-Q130_assertion
dcterms:description
"[Identification of the NF1 mutation is challenging because the NF1 gene is very large and complex, lacking mutational 'hot spots.' There is no clustering of mutations, there are several pseudogenes, and a wide spectrum of different types of mutation has been recognized.]. 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:24676943
;
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:NP588313.RAKaLg6i_gLCd9jACxZdD6qakALNKwSKeDEj6bAmdAl-Q130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:31+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" .
}