@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP569780.RAgknSFxD6WC-BtDCEKavfSBJI-5kp_xDBUZR-9jqO6OU
> .
@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:NP569780.RAgknSFxD6WC-BtDCEKavfSBJI-5kp_xDBUZR-9jqO6OU130_head
{
this:
np:hasAssertion
dgn-np:NP569780.RAgknSFxD6WC-BtDCEKavfSBJI-5kp_xDBUZR-9jqO6OU130_assertion
;
np:hasProvenance
dgn-np:NP569780.RAgknSFxD6WC-BtDCEKavfSBJI-5kp_xDBUZR-9jqO6OU130_provenance
;
np:hasPublicationInfo
dgn-np:NP569780.RAgknSFxD6WC-BtDCEKavfSBJI-5kp_xDBUZR-9jqO6OU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP569780.RAgknSFxD6WC-BtDCEKavfSBJI-5kp_xDBUZR-9jqO6OU130_assertion
a
np:Assertion
.
dgn-np:NP569780.RAgknSFxD6WC-BtDCEKavfSBJI-5kp_xDBUZR-9jqO6OU130_provenance
a
np:Provenance
.
dgn-np:NP569780.RAgknSFxD6WC-BtDCEKavfSBJI-5kp_xDBUZR-9jqO6OU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP569780.RAgknSFxD6WC-BtDCEKavfSBJI-5kp_xDBUZR-9jqO6OU130_assertion
{
miriam-gene:7048
a
ncit:C16612
.
lld:C0542514
a
ncit:C7057
.
dgn-gda:DGNdf25489cffb5c839191de8d76ff7d692
sio:SIO_000628
miriam-gene:7048
,
lld:C0542514
;
a
sio:SIO_001121
.
}
dgn-np:NP569780.RAgknSFxD6WC-BtDCEKavfSBJI-5kp_xDBUZR-9jqO6OU130_provenance
{
dgn-np:NP569780.RAgknSFxD6WC-BtDCEKavfSBJI-5kp_xDBUZR-9jqO6OU130_assertion
dcterms:description
"[Despite the restricted number of patients in our study, we identified five novel mutations in the TGFBR1 and TGFBR2 genes and, except for blue sclera, no differences in phenotype are apparent between Korean patients and Western patients.]. 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:22113417
;
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:NP569780.RAgknSFxD6WC-BtDCEKavfSBJI-5kp_xDBUZR-9jqO6OU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:43+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
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"v2.1.0" .
}