@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP295815.RAgRDNKbKRXClJXQ438G8dceREQu6vgvdN79oQ0-03iz8
> .
@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:NP295815.RAgRDNKbKRXClJXQ438G8dceREQu6vgvdN79oQ0-03iz8130_head
{
this:
np:hasAssertion
dgn-np:NP295815.RAgRDNKbKRXClJXQ438G8dceREQu6vgvdN79oQ0-03iz8130_assertion
;
np:hasProvenance
dgn-np:NP295815.RAgRDNKbKRXClJXQ438G8dceREQu6vgvdN79oQ0-03iz8130_provenance
;
np:hasPublicationInfo
dgn-np:NP295815.RAgRDNKbKRXClJXQ438G8dceREQu6vgvdN79oQ0-03iz8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP295815.RAgRDNKbKRXClJXQ438G8dceREQu6vgvdN79oQ0-03iz8130_assertion
a
np:Assertion
.
dgn-np:NP295815.RAgRDNKbKRXClJXQ438G8dceREQu6vgvdN79oQ0-03iz8130_provenance
a
np:Provenance
.
dgn-np:NP295815.RAgRDNKbKRXClJXQ438G8dceREQu6vgvdN79oQ0-03iz8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP295815.RAgRDNKbKRXClJXQ438G8dceREQu6vgvdN79oQ0-03iz8130_assertion
{
miriam-gene:1991
a
ncit:C16612
.
lld:C1853118
a
ncit:C7057
.
dgn-gda:DGN17635a0309f940b419c0d642e33e6e04
sio:SIO_000628
miriam-gene:1991
,
lld:C1853118
;
a
sio:SIO_001121
.
}
dgn-np:NP295815.RAgRDNKbKRXClJXQ438G8dceREQu6vgvdN79oQ0-03iz8130_provenance
{
dgn-np:NP295815.RAgRDNKbKRXClJXQ438G8dceREQu6vgvdN79oQ0-03iz8130_assertion
dcterms:description
"[This study indicates that mutations of the gene encoding neutrophil elastase are probably the most common cause for severe congenital neutropenia as well as the cause for sporadic and autosomal dominant cyclic neutropenia.]. 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:11001877
;
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:NP295815.RAgRDNKbKRXClJXQ438G8dceREQu6vgvdN79oQ0-03iz8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:59+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" .
}