@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs
> .
@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:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_head
{
this:
np:hasAssertion
dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_assertion
;
np:hasProvenance
dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_provenance
;
np:hasPublicationInfo
dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_assertion
a
np:Assertion
.
dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_provenance
a
np:Provenance
.
dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_assertion
{
miriam-gene:9496
a
ncit:C16612
.
lld:C1840061
a
ncit:C7057
.
dgn-gda:DGNa96c9c7da670cfbd80d29ff5155ae75a
sio:SIO_000628
miriam-gene:9496
,
lld:C1840061
;
a
sio:SIO_001122
.
}
dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_provenance
{
dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_assertion
dcterms:description
"[The present identification of heterozygous TBX4 mutations in SPS patients, together with the similar skeletal phenotype of animals lacking Tbx4, establish the importance of TBX4 in the developmental pathways of the lower limbs and the pelvis in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:15106123
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:00+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" .
}