@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP684862.RATzCRWAlSL6p_LJkcfIPdWaEGjqBYOzKJ4t-WrlJDwSs
> .
@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:NP684862.RATzCRWAlSL6p_LJkcfIPdWaEGjqBYOzKJ4t-WrlJDwSs130_head
{
this:
np:hasAssertion
dgn-np:NP684862.RATzCRWAlSL6p_LJkcfIPdWaEGjqBYOzKJ4t-WrlJDwSs130_assertion
;
np:hasProvenance
dgn-np:NP684862.RATzCRWAlSL6p_LJkcfIPdWaEGjqBYOzKJ4t-WrlJDwSs130_provenance
;
np:hasPublicationInfo
dgn-np:NP684862.RATzCRWAlSL6p_LJkcfIPdWaEGjqBYOzKJ4t-WrlJDwSs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP684862.RATzCRWAlSL6p_LJkcfIPdWaEGjqBYOzKJ4t-WrlJDwSs130_assertion
a
np:Assertion
.
dgn-np:NP684862.RATzCRWAlSL6p_LJkcfIPdWaEGjqBYOzKJ4t-WrlJDwSs130_provenance
a
np:Provenance
.
dgn-np:NP684862.RATzCRWAlSL6p_LJkcfIPdWaEGjqBYOzKJ4t-WrlJDwSs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP684862.RATzCRWAlSL6p_LJkcfIPdWaEGjqBYOzKJ4t-WrlJDwSs130_assertion
{
miriam-gene:1286
a
ncit:C16612
.
lld:C1567742
a
ncit:C7057
.
dgn-gda:DGNe5e12e0fa3f4513666047389aee3a3a9
sio:SIO_000628
miriam-gene:1286
,
lld:C1567742
;
a
sio:SIO_001121
.
}
dgn-np:NP684862.RATzCRWAlSL6p_LJkcfIPdWaEGjqBYOzKJ4t-WrlJDwSs130_provenance
{
dgn-np:NP684862.RATzCRWAlSL6p_LJkcfIPdWaEGjqBYOzKJ4t-WrlJDwSs130_assertion
dcterms: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:NP684862.RATzCRWAlSL6p_LJkcfIPdWaEGjqBYOzKJ4t-WrlJDwSs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:56+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" .
}