@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP944625.RABHq-HGriLHpd_vnCMWinC1YZmHfIo9OgjTub80ZGsGw
> .
@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:NP944625.RABHq-HGriLHpd_vnCMWinC1YZmHfIo9OgjTub80ZGsGw130_head
{
this:
np:hasAssertion
dgn-np:NP944625.RABHq-HGriLHpd_vnCMWinC1YZmHfIo9OgjTub80ZGsGw130_assertion
;
np:hasProvenance
dgn-np:NP944625.RABHq-HGriLHpd_vnCMWinC1YZmHfIo9OgjTub80ZGsGw130_provenance
;
np:hasPublicationInfo
dgn-np:NP944625.RABHq-HGriLHpd_vnCMWinC1YZmHfIo9OgjTub80ZGsGw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP944625.RABHq-HGriLHpd_vnCMWinC1YZmHfIo9OgjTub80ZGsGw130_assertion
a
np:Assertion
.
dgn-np:NP944625.RABHq-HGriLHpd_vnCMWinC1YZmHfIo9OgjTub80ZGsGw130_provenance
a
np:Provenance
.
dgn-np:NP944625.RABHq-HGriLHpd_vnCMWinC1YZmHfIo9OgjTub80ZGsGw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP944625.RABHq-HGriLHpd_vnCMWinC1YZmHfIo9OgjTub80ZGsGw130_assertion
{
miriam-gene:79628
a
ncit:C16612
.
lld:C0598589
a
ncit:C7057
.
dgn-gda:DGN12e18efbf8e9ae71fe5b241f145f5975
sio:SIO_000628
miriam-gene:79628
,
lld:C0598589
;
a
sio:SIO_001121
.
}
dgn-np:NP944625.RABHq-HGriLHpd_vnCMWinC1YZmHfIo9OgjTub80ZGsGw130_provenance
{
dgn-np:NP944625.RABHq-HGriLHpd_vnCMWinC1YZmHfIo9OgjTub80ZGsGw130_assertion
dcterms:description
"[Neuropathologic abnormalities can be sufficiently characteristic to suggest the genetic basis of some hereditary neuropathies such as those associated with mutations in MPZ, GJB1, GDAP1, MTMR2, SH3TC2, PRX, FGD4, and LMNA.]. 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:18957892
;
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:NP944625.RABHq-HGriLHpd_vnCMWinC1YZmHfIo9OgjTub80ZGsGw130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:17+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" .
}