@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ
> .
@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:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_head
{
this:
np:hasAssertion
dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_assertion
;
np:hasProvenance
dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_provenance
;
np:hasPublicationInfo
dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_assertion
a
np:Assertion
.
dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_provenance
a
np:Provenance
.
dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_assertion
{
miriam-gene:4763
a
ncit:C16612
.
lld:C0206727
a
ncit:C7057
.
dgn-gda:DGN87f7a5429145ffca66a2b3b02a9043ae
sio:SIO_000628
miriam-gene:4763
,
lld:C0206727
;
a
sio:SIO_001121
.
}
dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_provenance
{
dgn-np:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_assertion
dcterms:description
"[We describe here a patient with segmental NF in which we could not demonstrate any NF1 gene mutation in fibroblasts cultured from neurofibromas by use of the protein truncation test, enzymatic mutation detection and fluorescence in situ hybridisation.]. 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:12077526
;
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:NP358407.RArI6EszSnw60n4sgbzKDmETEk1yJW5C4N_Vmxq8S3occ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:27+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" .
}