@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP469510.RAxhuJY7QcK0Jak2CbRyir6KsrVvI-TMeg7G9yWeyA1NA
> .
@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:NP469510.RAxhuJY7QcK0Jak2CbRyir6KsrVvI-TMeg7G9yWeyA1NA130_head
{
this:
np:hasAssertion
dgn-np:NP469510.RAxhuJY7QcK0Jak2CbRyir6KsrVvI-TMeg7G9yWeyA1NA130_assertion
;
np:hasProvenance
dgn-np:NP469510.RAxhuJY7QcK0Jak2CbRyir6KsrVvI-TMeg7G9yWeyA1NA130_provenance
;
np:hasPublicationInfo
dgn-np:NP469510.RAxhuJY7QcK0Jak2CbRyir6KsrVvI-TMeg7G9yWeyA1NA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP469510.RAxhuJY7QcK0Jak2CbRyir6KsrVvI-TMeg7G9yWeyA1NA130_assertion
a
np:Assertion
.
dgn-np:NP469510.RAxhuJY7QcK0Jak2CbRyir6KsrVvI-TMeg7G9yWeyA1NA130_provenance
a
np:Provenance
.
dgn-np:NP469510.RAxhuJY7QcK0Jak2CbRyir6KsrVvI-TMeg7G9yWeyA1NA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP469510.RAxhuJY7QcK0Jak2CbRyir6KsrVvI-TMeg7G9yWeyA1NA130_assertion
{
miriam-gene:4830
a
ncit:C16612
.
lld:C0015544
a
ncit:C7057
.
dgn-gda:DGNa220a62e8dafebc706760b74deddc95d
sio:SIO_000628
miriam-gene:4830
,
lld:C0015544
;
a
sio:SIO_001121
.
}
dgn-np:NP469510.RAxhuJY7QcK0Jak2CbRyir6KsrVvI-TMeg7G9yWeyA1NA130_provenance
{
dgn-np:NP469510.RAxhuJY7QcK0Jak2CbRyir6KsrVvI-TMeg7G9yWeyA1NA130_assertion
dcterms:description
"[This case represents the first known false-negative result in Minnesota since the initiation of NBS for CF in 2006, which illustrates the importance of considering CF in the evaluation of an infant with failure to thrive and symptoms of malabsorption, regardless of NBS results.]. 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:21727111
;
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:NP469510.RAxhuJY7QcK0Jak2CbRyir6KsrVvI-TMeg7G9yWeyA1NA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:41+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" .
}