@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw
> .
@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:NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_head
{
this:
np:hasAssertion
dgn-np:NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_assertion
;
np:hasProvenance
dgn-np:NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_provenance
;
np:hasPublicationInfo
dgn-np:NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_assertion
a
np:Assertion
.
dgn-np:NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_provenance
a
np:Provenance
.
dgn-np:NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_assertion
{
miriam-gene:2131
a
ncit:C16612
.
lld:C0023003
a
ncit:C7057
.
dgn-gda:DGNc1b906b3b9ff6511fb5d3cd2bbfc3afc
sio:SIO_000628
miriam-gene:2131
,
lld:C0023003
;
a
sio:SIO_001121
.
}
dgn-np:NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_provenance
{
dgn-np:NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_assertion
dcterms:description
"[Even though the deletion of TRPS1 and EXT1 genes is responsible for craniofacial and skeletal features of LGS, there have been previous reports of patients with LGS phenotype and 8q24 deletions leaving the TRPS1 gene intact.]. 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:22315192
;
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:NP470242.RAvZLNGPH-hBjXBpZl18pjK1twR_UkdWiYSvUVsh0mDpw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:42+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" .
}