@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0
> .
@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:NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_head
{
this:
np:hasAssertion
dgn-np:NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_assertion
;
np:hasProvenance
dgn-np:NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_provenance
;
np:hasPublicationInfo
dgn-np:NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_assertion
a
np:Assertion
.
dgn-np:NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_provenance
a
np:Provenance
.
dgn-np:NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_assertion
{
miriam-gene:6662
a
ncit:C16612
.
lld:C0265509
a
ncit:C7057
.
dgn-gda:DGN119225e4428b7e6ddd35e10b01a2a65f
sio:SIO_000628
miriam-gene:6662
,
lld:C0265509
;
a
sio:SIO_001121
.
}
dgn-np:NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_provenance
{
dgn-np:NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_assertion
dcterms:description
"[The semilethal skeletal malformation syndrome campomelic dysplasia (CD) with or without XY sex reversal is caused by mutations within the SOX9 gene on 17q24.3 or by chromosomal aberrations (translocations, inversions or deletions) with breakpoints outside the SOX9 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:17204049
;
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:NP587273.RA7jkwXMXE9qiMtVXRP0mvtaTHkwYhy-5xtCCa--nh_W0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:11+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" .
}