@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1344405.RAiPasSZdFp7NHSbYhML7tXVpag289vpiFhc0XEvK-Fjc
> .
@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:NP1344405.RAiPasSZdFp7NHSbYhML7tXVpag289vpiFhc0XEvK-Fjc130_head
{
this:
np:hasAssertion
dgn-np:NP1344405.RAiPasSZdFp7NHSbYhML7tXVpag289vpiFhc0XEvK-Fjc130_assertion
;
np:hasProvenance
dgn-np:NP1344405.RAiPasSZdFp7NHSbYhML7tXVpag289vpiFhc0XEvK-Fjc130_provenance
;
np:hasPublicationInfo
dgn-np:NP1344405.RAiPasSZdFp7NHSbYhML7tXVpag289vpiFhc0XEvK-Fjc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1344405.RAiPasSZdFp7NHSbYhML7tXVpag289vpiFhc0XEvK-Fjc130_assertion
a
np:Assertion
.
dgn-np:NP1344405.RAiPasSZdFp7NHSbYhML7tXVpag289vpiFhc0XEvK-Fjc130_provenance
a
np:Provenance
.
dgn-np:NP1344405.RAiPasSZdFp7NHSbYhML7tXVpag289vpiFhc0XEvK-Fjc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1344405.RAiPasSZdFp7NHSbYhML7tXVpag289vpiFhc0XEvK-Fjc130_assertion
{
miriam-gene:2131
a
ncit:C16612
.
lld:C0015306
a
ncit:C7057
.
dgn-gda:DGN1446ac867f86ba32ed833a7998ca9882
sio:SIO_000628
miriam-gene:2131
,
lld:C0015306
;
a
sio:SIO_001121
.
}
dgn-np:NP1344405.RAiPasSZdFp7NHSbYhML7tXVpag289vpiFhc0XEvK-Fjc130_provenance
{
dgn-np:NP1344405.RAiPasSZdFp7NHSbYhML7tXVpag289vpiFhc0XEvK-Fjc130_assertion
dcterms:description
"[A deletion of 8q24.11-q24.3 in a patient with multiple exostoses was found to overlap the distal end of the LGS deletion region, indicating that the EXT1 gene is distal to the TRPS1 gene and supporting the hypothesis that Langer-Giedion syndrome is due to loss of functional copies of both the TRPS1 and the EXT1 genes.]. 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:8530105
;
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:NP1344405.RAiPasSZdFp7NHSbYhML7tXVpag289vpiFhc0XEvK-Fjc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:55+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" .
}