@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP481801.RA_Wyh0P8MkYmSQCUD_VCXNocXCX3m6_p6Lz0zRNjNifg
> .
@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:NP481801.RA_Wyh0P8MkYmSQCUD_VCXNocXCX3m6_p6Lz0zRNjNifg130_head
{
this:
np:hasAssertion
dgn-np:NP481801.RA_Wyh0P8MkYmSQCUD_VCXNocXCX3m6_p6Lz0zRNjNifg130_assertion
;
np:hasProvenance
dgn-np:NP481801.RA_Wyh0P8MkYmSQCUD_VCXNocXCX3m6_p6Lz0zRNjNifg130_provenance
;
np:hasPublicationInfo
dgn-np:NP481801.RA_Wyh0P8MkYmSQCUD_VCXNocXCX3m6_p6Lz0zRNjNifg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP481801.RA_Wyh0P8MkYmSQCUD_VCXNocXCX3m6_p6Lz0zRNjNifg130_assertion
a
np:Assertion
.
dgn-np:NP481801.RA_Wyh0P8MkYmSQCUD_VCXNocXCX3m6_p6Lz0zRNjNifg130_provenance
a
np:Provenance
.
dgn-np:NP481801.RA_Wyh0P8MkYmSQCUD_VCXNocXCX3m6_p6Lz0zRNjNifg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP481801.RA_Wyh0P8MkYmSQCUD_VCXNocXCX3m6_p6Lz0zRNjNifg130_assertion
{
miriam-gene:9219
a
ncit:C16612
.
lld:C0398686
a
ncit:C7057
.
dgn-gda:DGN4d072c884fde57c699511738153c90d0
sio:SIO_000628
miriam-gene:9219
,
lld:C0398686
;
a
sio:SIO_001121
.
}
dgn-np:NP481801.RA_Wyh0P8MkYmSQCUD_VCXNocXCX3m6_p6Lz0zRNjNifg130_provenance
{
dgn-np:NP481801.RA_Wyh0P8MkYmSQCUD_VCXNocXCX3m6_p6Lz0zRNjNifg130_assertion
dcterms:description
"[Technical possibilities to screen for inborn errors of immune function at the neonatal stage have been rapidly progressing, whereas the guidelines that apply for the evaluation of benefits and concerns on expanding screening panels have not been broadly discussed for primary immunodeficiency diseases (PID).]. 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:23108220
;
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:NP481801.RA_Wyh0P8MkYmSQCUD_VCXNocXCX3m6_p6Lz0zRNjNifg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:48+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" .
}