@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1391521.RAlG97jW0WNRxAOvwd54SD5FjsfS0XovwmGFRA5Dse7rU
> .
@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:NP1391521.RAlG97jW0WNRxAOvwd54SD5FjsfS0XovwmGFRA5Dse7rU130_head
{
this:
np:hasAssertion
dgn-np:NP1391521.RAlG97jW0WNRxAOvwd54SD5FjsfS0XovwmGFRA5Dse7rU130_assertion
;
np:hasProvenance
dgn-np:NP1391521.RAlG97jW0WNRxAOvwd54SD5FjsfS0XovwmGFRA5Dse7rU130_provenance
;
np:hasPublicationInfo
dgn-np:NP1391521.RAlG97jW0WNRxAOvwd54SD5FjsfS0XovwmGFRA5Dse7rU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1391521.RAlG97jW0WNRxAOvwd54SD5FjsfS0XovwmGFRA5Dse7rU130_assertion
a
np:Assertion
.
dgn-np:NP1391521.RAlG97jW0WNRxAOvwd54SD5FjsfS0XovwmGFRA5Dse7rU130_provenance
a
np:Provenance
.
dgn-np:NP1391521.RAlG97jW0WNRxAOvwd54SD5FjsfS0XovwmGFRA5Dse7rU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1391521.RAlG97jW0WNRxAOvwd54SD5FjsfS0XovwmGFRA5Dse7rU130_assertion
{
miriam-gene:1441
a
ncit:C16612
.
lld:C0340970
a
ncit:C7057
.
dgn-gda:DGNc6ccc9a695e63a204b420337a3192940
sio:SIO_000628
miriam-gene:1441
,
lld:C0340970
;
a
sio:SIO_001121
.
}
dgn-np:NP1391521.RAlG97jW0WNRxAOvwd54SD5FjsfS0XovwmGFRA5Dse7rU130_provenance
{
dgn-np:NP1391521.RAlG97jW0WNRxAOvwd54SD5FjsfS0XovwmGFRA5Dse7rU130_assertion
dcterms:description
"[Acquired mutations in the G-CSFR resulting in truncation of the distal cytoplasmic region that mediates maturation and growth arrest signaling have been reported in patients with severe congenital neutropenia (SCN) and acute myelogenous leukemia (AML).]. 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:9517498
;
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:NP1391521.RAlG97jW0WNRxAOvwd54SD5FjsfS0XovwmGFRA5Dse7rU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:17+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}