@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_head
{
this:
np:hasAssertion
dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_assertion
;
np:hasProvenance
dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_provenance
;
np:hasPublicationInfo
dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_assertion
a
np:Assertion
.
dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_provenance
a
np:Provenance
.
dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_assertion
{
miriam-gene:6910
a
ncit:C16612
.
lld:C0265264
a
ncit:C7057
.
dgn-gda:DGNb511fa5730c05f814e8c47b3c54d00dc
sio:SIO_000628
miriam-gene:6910
,
lld:C0265264
;
a
sio:SIO_001121
.
}
dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_provenance
{
dgn-np:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_assertion
dcterms:description
"[Our identification of TBX5 mutations has enabled us to offer genetic testing for diagnosis of HOS in patients and also to perform preimplantation genetic diagnosis on blastocysts for couples desiring to have a child unaffected by HOS.]. 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:16691575
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP549393.RAjPgC0JH1nLgr6pXd5aRX9wAmeOTg9E1G3_Tu_CTSpss130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:54+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}