@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP467579.RAZaILZ20THV6_71hkl4Ko8xn-fHwr1Tq3JlNVKpd47c4
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP467579.RAZaILZ20THV6_71hkl4Ko8xn-fHwr1Tq3JlNVKpd47c4130_head
{
this:
np:hasAssertion
dgn-np:NP467579.RAZaILZ20THV6_71hkl4Ko8xn-fHwr1Tq3JlNVKpd47c4130_assertion
;
np:hasProvenance
dgn-np:NP467579.RAZaILZ20THV6_71hkl4Ko8xn-fHwr1Tq3JlNVKpd47c4130_provenance
;
np:hasPublicationInfo
dgn-np:NP467579.RAZaILZ20THV6_71hkl4Ko8xn-fHwr1Tq3JlNVKpd47c4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP467579.RAZaILZ20THV6_71hkl4Ko8xn-fHwr1Tq3JlNVKpd47c4130_assertion
a
np:Assertion
.
dgn-np:NP467579.RAZaILZ20THV6_71hkl4Ko8xn-fHwr1Tq3JlNVKpd47c4130_provenance
a
np:Provenance
.
dgn-np:NP467579.RAZaILZ20THV6_71hkl4Ko8xn-fHwr1Tq3JlNVKpd47c4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP467579.RAZaILZ20THV6_71hkl4Ko8xn-fHwr1Tq3JlNVKpd47c4130_assertion
{
miriam-gene:63897
a
ncit:C16612
.
lld:C0007222
a
ncit:C7057
.
dgn-gda:DGN3f0288dad35d1f866191f8e8a2150188
sio:SIO_000628
miriam-gene:63897
,
lld:C0007222
;
a
sio:SIO_001121
.
}
dgn-np:NP467579.RAZaILZ20THV6_71hkl4Ko8xn-fHwr1Tq3JlNVKpd47c4130_provenance
{
dgn-np:NP467579.RAZaILZ20THV6_71hkl4Ko8xn-fHwr1Tq3JlNVKpd47c4130_assertion
dcterms:description
"[This case appears to be unique in respect to the underlying novel mutation in the ABC1 gene and its association with complete endoneurial sclerosis of all fascicles in the sural nerve and absence of cardiovascular disease.]. 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:12615648
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP467579.RAZaILZ20THV6_71hkl4Ko8xn-fHwr1Tq3JlNVKpd47c4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:40+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}