@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY
> .
@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:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_head
{
this:
np:hasAssertion
dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_assertion
;
np:hasProvenance
dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_provenance
;
np:hasPublicationInfo
dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_assertion
a
np:Assertion
.
dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_provenance
a
np:Provenance
.
dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_assertion
{
miriam-gene:6023
a
ncit:C16612
.
lld:C0015544
a
ncit:C7057
.
dgn-gda:DGN3ee56849046a73021c2536541098f144
sio:SIO_000628
miriam-gene:6023
,
lld:C0015544
;
a
sio:SIO_001121
.
}
dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_provenance
{
dgn-np:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_assertion
dcterms:description
"[Previous reports in single CHH patients with significant immunodeficiencies have demonstrated that allogeneic hematopoietic stem cell transplantation (HSCT) is an effective treatment for the severe immunodeficiency, while growth failure remains unaffected.]. 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:20375313
;
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:NP643489.RA5oNy-_nHGoHEv_JEDzx7_EnjRNiEDdT6k-eLUpuFYOY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:28+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" .
}