@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU
> .
@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:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_head
{
this:
np:hasAssertion
dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_assertion
;
np:hasProvenance
dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_provenance
;
np:hasPublicationInfo
dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_assertion
a
np:Assertion
.
dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_provenance
a
np:Provenance
.
dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_assertion
{
miriam-gene:2131
a
ncit:C16612
.
lld:C0015306
a
ncit:C7057
.
dgn-gda:DGN9fe9c616948714421c7e336c4c26b800
sio:SIO_000628
miriam-gene:2131
,
lld:C0015306
;
a
sio:SIO_001121
.
}
dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_provenance
{
dgn-np:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_assertion
dcterms:description
"[These results corroborate and extend the previous report of mutations in this gene in two EXT families, and provide additional support for the EXT1 gene as the cause of hereditary multiple exostoses in families showing linkage to chromosome 8.]. 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:9150727
;
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:NP1372842.RAPRoZfTZDwMYTr_Vjvl4XlZDxghxxJLYZhY132TZ-fnU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:08+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" .
}