@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP214516.RAUKswwCu_UFhbF9_97Ff7pNcCOCkY9tET6LVorsJJR_Q
> .
@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:NP214516.RAUKswwCu_UFhbF9_97Ff7pNcCOCkY9tET6LVorsJJR_Q130_head
{
this:
np:hasAssertion
dgn-np:NP214516.RAUKswwCu_UFhbF9_97Ff7pNcCOCkY9tET6LVorsJJR_Q130_assertion
;
np:hasProvenance
dgn-np:NP214516.RAUKswwCu_UFhbF9_97Ff7pNcCOCkY9tET6LVorsJJR_Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP214516.RAUKswwCu_UFhbF9_97Ff7pNcCOCkY9tET6LVorsJJR_Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP214516.RAUKswwCu_UFhbF9_97Ff7pNcCOCkY9tET6LVorsJJR_Q130_assertion
a
np:Assertion
.
dgn-np:NP214516.RAUKswwCu_UFhbF9_97Ff7pNcCOCkY9tET6LVorsJJR_Q130_provenance
a
np:Provenance
.
dgn-np:NP214516.RAUKswwCu_UFhbF9_97Ff7pNcCOCkY9tET6LVorsJJR_Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP214516.RAUKswwCu_UFhbF9_97Ff7pNcCOCkY9tET6LVorsJJR_Q130_assertion
{
miriam-gene:56658
a
ncit:C16612
.
lld:C0015230
a
ncit:C7057
.
dgn-gda:DGN7b5dedb1990fb953c1bccbb48299f088
sio:SIO_000628
miriam-gene:56658
,
lld:C0015230
;
a
sio:SIO_001121
.
}
dgn-np:NP214516.RAUKswwCu_UFhbF9_97Ff7pNcCOCkY9tET6LVorsJJR_Q130_provenance
{
dgn-np:NP214516.RAUKswwCu_UFhbF9_97Ff7pNcCOCkY9tET6LVorsJJR_Q130_assertion
dcterms:description
"[This is the first report of the diagnosis of TFP deficiency using blood spots obtained for newborn screening and suggests that TFP deficiency may be detectable by prospective newborn screening using MS/MS.]. 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:10400133
;
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:NP214516.RAUKswwCu_UFhbF9_97Ff7pNcCOCkY9tET6LVorsJJR_Q130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:59+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" .
}