@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP341557.RAOctTfOZKA3d_ZW4YdzQqscA6OVrMgUi86ZKANdEO2XM
> .
@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:NP341557.RAOctTfOZKA3d_ZW4YdzQqscA6OVrMgUi86ZKANdEO2XM130_head
{
this:
np:hasAssertion
dgn-np:NP341557.RAOctTfOZKA3d_ZW4YdzQqscA6OVrMgUi86ZKANdEO2XM130_assertion
;
np:hasProvenance
dgn-np:NP341557.RAOctTfOZKA3d_ZW4YdzQqscA6OVrMgUi86ZKANdEO2XM130_provenance
;
np:hasPublicationInfo
dgn-np:NP341557.RAOctTfOZKA3d_ZW4YdzQqscA6OVrMgUi86ZKANdEO2XM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP341557.RAOctTfOZKA3d_ZW4YdzQqscA6OVrMgUi86ZKANdEO2XM130_assertion
a
np:Assertion
.
dgn-np:NP341557.RAOctTfOZKA3d_ZW4YdzQqscA6OVrMgUi86ZKANdEO2XM130_provenance
a
np:Provenance
.
dgn-np:NP341557.RAOctTfOZKA3d_ZW4YdzQqscA6OVrMgUi86ZKANdEO2XM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP341557.RAOctTfOZKA3d_ZW4YdzQqscA6OVrMgUi86ZKANdEO2XM130_assertion
{
miriam-gene:1280
a
ncit:C16612
.
lld:C0265210
a
ncit:C7057
.
dgn-gda:DGNd923667d82aeffd4a83d660399ce2523
sio:SIO_000628
miriam-gene:1280
,
lld:C0265210
;
a
sio:SIO_001121
.
}
dgn-np:NP341557.RAOctTfOZKA3d_ZW4YdzQqscA6OVrMgUi86ZKANdEO2XM130_provenance
{
dgn-np:NP341557.RAOctTfOZKA3d_ZW4YdzQqscA6OVrMgUi86ZKANdEO2XM130_assertion
dcterms:description
"[A series of 44 unrelated patients in whom COL2A1 screening demonstrated normal results but whose phenotype was nevertheless highly suggestive of either Stickler syndrome (with ocular involvement) or Marshall syndrome were investigated for mutations in the COL11A1 gene.]. 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:17236192
;
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:NP341557.RAOctTfOZKA3d_ZW4YdzQqscA6OVrMgUi86ZKANdEO2XM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:21+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" .
}