@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP421838.RA5NlE_zvKyxec7ai4Ste6SQeSuBsquvBheuOnf2a8qDc
> .
@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/v4.0.0/void/
> .
dgn-np:NP421838.RA5NlE_zvKyxec7ai4Ste6SQeSuBsquvBheuOnf2a8qDc130_head
{
this:
np:hasAssertion
dgn-np:NP421838.RA5NlE_zvKyxec7ai4Ste6SQeSuBsquvBheuOnf2a8qDc130_assertion
;
np:hasProvenance
dgn-np:NP421838.RA5NlE_zvKyxec7ai4Ste6SQeSuBsquvBheuOnf2a8qDc130_provenance
;
np:hasPublicationInfo
dgn-np:NP421838.RA5NlE_zvKyxec7ai4Ste6SQeSuBsquvBheuOnf2a8qDc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP421838.RA5NlE_zvKyxec7ai4Ste6SQeSuBsquvBheuOnf2a8qDc130_assertion
a
np:Assertion
.
dgn-np:NP421838.RA5NlE_zvKyxec7ai4Ste6SQeSuBsquvBheuOnf2a8qDc130_provenance
a
np:Provenance
.
dgn-np:NP421838.RA5NlE_zvKyxec7ai4Ste6SQeSuBsquvBheuOnf2a8qDc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP421838.RA5NlE_zvKyxec7ai4Ste6SQeSuBsquvBheuOnf2a8qDc130_assertion
{
miriam-gene:4763
a
ncit:C16612
.
lld:C0027830
a
ncit:C7057
.
dgn-gda:DGN5c6ed52583f9f03898448d6648bad112
sio:SIO_000628
miriam-gene:4763
,
lld:C0027830
;
a
sio:SIO_001121
.
}
dgn-np:NP421838.RA5NlE_zvKyxec7ai4Ste6SQeSuBsquvBheuOnf2a8qDc130_provenance
{
dgn-np:NP421838.RA5NlE_zvKyxec7ai4Ste6SQeSuBsquvBheuOnf2a8qDc130_assertion
dcterms:description
"[The analysis of somatic NF1 gene mutations in neurofibromas from NF1 patients revealed that each neurofibroma results from an individual second hit mutation, indicating that factors that influence somatic mutation rates may be regarded as potential modifiers of NF1.]. 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:14635100
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP421838.RA5NlE_zvKyxec7ai4Ste6SQeSuBsquvBheuOnf2a8qDc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:56+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" .
}