@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP277382.RAk_10DQYot67Rvnk6FXD_jtTsf5HOA6OgjIrvSm7xjNs
> .
@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:NP277382.RAk_10DQYot67Rvnk6FXD_jtTsf5HOA6OgjIrvSm7xjNs130_head
{
this:
np:hasAssertion
dgn-np:NP277382.RAk_10DQYot67Rvnk6FXD_jtTsf5HOA6OgjIrvSm7xjNs130_assertion
;
np:hasProvenance
dgn-np:NP277382.RAk_10DQYot67Rvnk6FXD_jtTsf5HOA6OgjIrvSm7xjNs130_provenance
;
np:hasPublicationInfo
dgn-np:NP277382.RAk_10DQYot67Rvnk6FXD_jtTsf5HOA6OgjIrvSm7xjNs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP277382.RAk_10DQYot67Rvnk6FXD_jtTsf5HOA6OgjIrvSm7xjNs130_assertion
a
np:Assertion
.
dgn-np:NP277382.RAk_10DQYot67Rvnk6FXD_jtTsf5HOA6OgjIrvSm7xjNs130_provenance
a
np:Provenance
.
dgn-np:NP277382.RAk_10DQYot67Rvnk6FXD_jtTsf5HOA6OgjIrvSm7xjNs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP277382.RAk_10DQYot67Rvnk6FXD_jtTsf5HOA6OgjIrvSm7xjNs130_assertion
{
miriam-gene:1280
a
ncit:C16612
.
lld:C2020284
a
ncit:C7057
.
dgn-gda:DGNcc153484a1ce8d01d5e39b1e8a8f391d
sio:SIO_000628
miriam-gene:1280
,
lld:C2020284
;
a
sio:SIO_001121
.
}
dgn-np:NP277382.RAk_10DQYot67Rvnk6FXD_jtTsf5HOA6OgjIrvSm7xjNs130_provenance
{
dgn-np:NP277382.RAk_10DQYot67Rvnk6FXD_jtTsf5HOA6OgjIrvSm7xjNs130_assertion
dcterms:description
"[As well as providing further evidence that type 1 Stickler syndrome results from COL2A1 premature stop codon mutations, this study suggests mutant mRNA instability leading to haploinsufficiency may also be an important, but previously unrecognized, molecular basis of Stickler syndrome.]. 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:10706362
;
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:NP277382.RAk_10DQYot67Rvnk6FXD_jtTsf5HOA6OgjIrvSm7xjNs130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:51+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" .
}