@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP380135.RAcCfiA0qXRcc4Sp9zhjt-kpuylmvoT8lSMeHLEPqpaxE
> .
@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:NP380135.RAcCfiA0qXRcc4Sp9zhjt-kpuylmvoT8lSMeHLEPqpaxE130_head
{
this:
np:hasAssertion
dgn-np:NP380135.RAcCfiA0qXRcc4Sp9zhjt-kpuylmvoT8lSMeHLEPqpaxE130_assertion
;
np:hasProvenance
dgn-np:NP380135.RAcCfiA0qXRcc4Sp9zhjt-kpuylmvoT8lSMeHLEPqpaxE130_provenance
;
np:hasPublicationInfo
dgn-np:NP380135.RAcCfiA0qXRcc4Sp9zhjt-kpuylmvoT8lSMeHLEPqpaxE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP380135.RAcCfiA0qXRcc4Sp9zhjt-kpuylmvoT8lSMeHLEPqpaxE130_assertion
a
np:Assertion
.
dgn-np:NP380135.RAcCfiA0qXRcc4Sp9zhjt-kpuylmvoT8lSMeHLEPqpaxE130_provenance
a
np:Provenance
.
dgn-np:NP380135.RAcCfiA0qXRcc4Sp9zhjt-kpuylmvoT8lSMeHLEPqpaxE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP380135.RAcCfiA0qXRcc4Sp9zhjt-kpuylmvoT8lSMeHLEPqpaxE130_assertion
{
miriam-gene:9241
a
ncit:C16612
.
lld:C0342282
a
ncit:C7057
.
dgn-gda:DGN470ea2bc0d3afd2022eef9f833f621e4
sio:SIO_000628
miriam-gene:9241
,
lld:C0342282
;
a
sio:SIO_001121
.
}
dgn-np:NP380135.RAcCfiA0qXRcc4Sp9zhjt-kpuylmvoT8lSMeHLEPqpaxE130_provenance
{
dgn-np:NP380135.RAcCfiA0qXRcc4Sp9zhjt-kpuylmvoT8lSMeHLEPqpaxE130_assertion
dcterms:description
"[In contrast to most NOG mutations that have been reported in kindreds with SYM1 and SYNS1, the mutations observed in these families with stapes ankylosis without symphalangism are predicted to disrupt the cysteine-rich C-terminal domain.]. 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:12089654
;
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:NP380135.RAcCfiA0qXRcc4Sp9zhjt-kpuylmvoT8lSMeHLEPqpaxE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:45+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" .
}