@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP376976.RAEPCzeVPghjOb6yRtuOM-Q0Eeib60LVxeQxUyXLHBDUU
> .
@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:NP376976.RAEPCzeVPghjOb6yRtuOM-Q0Eeib60LVxeQxUyXLHBDUU130_head
{
this:
np:hasAssertion
dgn-np:NP376976.RAEPCzeVPghjOb6yRtuOM-Q0Eeib60LVxeQxUyXLHBDUU130_assertion
;
np:hasProvenance
dgn-np:NP376976.RAEPCzeVPghjOb6yRtuOM-Q0Eeib60LVxeQxUyXLHBDUU130_provenance
;
np:hasPublicationInfo
dgn-np:NP376976.RAEPCzeVPghjOb6yRtuOM-Q0Eeib60LVxeQxUyXLHBDUU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP376976.RAEPCzeVPghjOb6yRtuOM-Q0Eeib60LVxeQxUyXLHBDUU130_assertion
a
np:Assertion
.
dgn-np:NP376976.RAEPCzeVPghjOb6yRtuOM-Q0Eeib60LVxeQxUyXLHBDUU130_provenance
a
np:Provenance
.
dgn-np:NP376976.RAEPCzeVPghjOb6yRtuOM-Q0Eeib60LVxeQxUyXLHBDUU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP376976.RAEPCzeVPghjOb6yRtuOM-Q0Eeib60LVxeQxUyXLHBDUU130_assertion
{
miriam-gene:6135
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGN1b13fd5f7d1d2cfc0a5e2225bddc15b8
sio:SIO_000628
miriam-gene:6135
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP376976.RAEPCzeVPghjOb6yRtuOM-Q0Eeib60LVxeQxUyXLHBDUU130_provenance
{
dgn-np:NP376976.RAEPCzeVPghjOb6yRtuOM-Q0Eeib60LVxeQxUyXLHBDUU130_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-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:NP376976.RAEPCzeVPghjOb6yRtuOM-Q0Eeib60LVxeQxUyXLHBDUU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:40+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" .
}