@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4
> .
@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 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#
> .
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{
this:
np:hasAssertion
dgn-np:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_assertion
a
np:Assertion
.
dgn-np:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_provenance
a
np:Provenance
.
dgn-np:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_publicationInfo
a
np:PublicationInfo
.
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dgn-np:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_assertion
{
miriam-gene:1286
a
ncit:C16612
.
lld:C1859726
a
ncit:C7057
.
dgn-gda:DGN0952cf6002b5aef3aeecf81811c271ab
sio:SIO_000628
miriam-gene:1286
,
lld:C1859726
;
a
sio:SIO_001121
.
}
dgn-np:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_provenance
{
dgn-np:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_assertion
dc:description
"[The application of this technology allowed us to identify the second mutation in two ATS patients (p.Ser1147Phe in COL4A3 and p.Arg1682Trp in COL4A4) and to reconsider the diagnosis of ATS in a third patient.]. 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:21897443
;
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:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_publicationInfo
{
this:
dc:created
"2014-10-02T12:35:40+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
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> , <
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> , <
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> , <
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" .
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pav:version
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