@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A
> .
@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:NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_head
{
this:
np:hasAssertion
dgn-np:NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_assertion
;
np:hasProvenance
dgn-np:NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_provenance
;
np:hasPublicationInfo
dgn-np:NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_assertion
a
np:Assertion
.
dgn-np:NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_provenance
a
np:Provenance
.
dgn-np:NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_assertion
{
miriam-gene:6125
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGNfeaf0485e00a5b9045c12059d901b454
sio:SIO_000628
miriam-gene:6125
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_provenance
{
dgn-np:NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_assertion
dcterms:description
"[Remarkably, careful review of the clinical data showed that mutations in RPL5 are associated with multiple physical abnormalities, including craniofacial, thumb, and heart anomalies, whereas isolated thumb malformations are predominantly present in patients carrying mutations in RPL11.]. 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:19061985
;
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:NP707726.RASEfRAnH_4SZvA39BshQi3CEumK5OnfDEGEa6sZzps5A130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:06+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" .
}