@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP431749.RAMXhGwiiUSADQJ_iI99RWa2dXyDgMu89SP9XD889Ej9o
> .
@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:NP431749.RAMXhGwiiUSADQJ_iI99RWa2dXyDgMu89SP9XD889Ej9o130_head
{
this:
np:hasAssertion
dgn-np:NP431749.RAMXhGwiiUSADQJ_iI99RWa2dXyDgMu89SP9XD889Ej9o130_assertion
;
np:hasProvenance
dgn-np:NP431749.RAMXhGwiiUSADQJ_iI99RWa2dXyDgMu89SP9XD889Ej9o130_provenance
;
np:hasPublicationInfo
dgn-np:NP431749.RAMXhGwiiUSADQJ_iI99RWa2dXyDgMu89SP9XD889Ej9o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP431749.RAMXhGwiiUSADQJ_iI99RWa2dXyDgMu89SP9XD889Ej9o130_assertion
a
np:Assertion
.
dgn-np:NP431749.RAMXhGwiiUSADQJ_iI99RWa2dXyDgMu89SP9XD889Ej9o130_provenance
a
np:Provenance
.
dgn-np:NP431749.RAMXhGwiiUSADQJ_iI99RWa2dXyDgMu89SP9XD889Ej9o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP431749.RAMXhGwiiUSADQJ_iI99RWa2dXyDgMu89SP9XD889Ej9o130_assertion
{
miriam-gene:1991
a
ncit:C16612
.
lld:C0340970
a
ncit:C7057
.
dgn-gda:DGNc35fbee08f5907f983be5ecdfb91b5ce
sio:SIO_000628
miriam-gene:1991
,
lld:C0340970
;
a
sio:SIO_001121
.
}
dgn-np:NP431749.RAMXhGwiiUSADQJ_iI99RWa2dXyDgMu89SP9XD889Ej9o130_provenance
{
dgn-np:NP431749.RAMXhGwiiUSADQJ_iI99RWa2dXyDgMu89SP9XD889Ej9o130_assertion
dcterms:description
"[By phenotypic analysis of affected relatives and carriers of the same ELA2 mutations, we showed that the expression of neutropenia in CN and SCN may be either homogeneous or variable according to the type of mutations, suggesting different pathogenetic mechanisms.]. 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:14962902
;
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:NP431749.RAMXhGwiiUSADQJ_iI99RWa2dXyDgMu89SP9XD889Ej9o130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:01+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" .
}