@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP524635.RAaEF4hpJdVzauN9vDcJdgGhNdZVxHTrMPPbRiWZqxoEg
> .
@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:NP524635.RAaEF4hpJdVzauN9vDcJdgGhNdZVxHTrMPPbRiWZqxoEg130_head
{
this:
np:hasAssertion
dgn-np:NP524635.RAaEF4hpJdVzauN9vDcJdgGhNdZVxHTrMPPbRiWZqxoEg130_assertion
;
np:hasProvenance
dgn-np:NP524635.RAaEF4hpJdVzauN9vDcJdgGhNdZVxHTrMPPbRiWZqxoEg130_provenance
;
np:hasPublicationInfo
dgn-np:NP524635.RAaEF4hpJdVzauN9vDcJdgGhNdZVxHTrMPPbRiWZqxoEg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP524635.RAaEF4hpJdVzauN9vDcJdgGhNdZVxHTrMPPbRiWZqxoEg130_assertion
a
np:Assertion
.
dgn-np:NP524635.RAaEF4hpJdVzauN9vDcJdgGhNdZVxHTrMPPbRiWZqxoEg130_provenance
a
np:Provenance
.
dgn-np:NP524635.RAaEF4hpJdVzauN9vDcJdgGhNdZVxHTrMPPbRiWZqxoEg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP524635.RAaEF4hpJdVzauN9vDcJdgGhNdZVxHTrMPPbRiWZqxoEg130_assertion
{
miriam-gene:6473
a
ncit:C16612
.
lld:C0265309
a
ncit:C7057
.
dgn-gda:DGN5d433c2ae01909e4c8fdad0408f58146
sio:SIO_000628
miriam-gene:6473
,
lld:C0265309
;
a
sio:SIO_001121
.
}
dgn-np:NP524635.RAaEF4hpJdVzauN9vDcJdgGhNdZVxHTrMPPbRiWZqxoEg130_provenance
{
dgn-np:NP524635.RAaEF4hpJdVzauN9vDcJdgGhNdZVxHTrMPPbRiWZqxoEg130_assertion
dcterms:description
"[Although the majority of patients with LWS in this study have SHOX gene haploinsufficiency, there are some patients with both copies of the SHOX gene intact with absence of any point mutations in the coding region.]. 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:16319696
;
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:NP524635.RAaEF4hpJdVzauN9vDcJdgGhNdZVxHTrMPPbRiWZqxoEg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:42+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: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" .
}