@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP301909.RATojt_mXJH5cq-1PMpzzNDFPTuDn-xypHHQHHzl5Iq9k
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP301909.RATojt_mXJH5cq-1PMpzzNDFPTuDn-xypHHQHHzl5Iq9k130_assertion
;
np:hasProvenance
dgn-np:NP301909.RATojt_mXJH5cq-1PMpzzNDFPTuDn-xypHHQHHzl5Iq9k130_provenance
;
np:hasPublicationInfo
dgn-np:NP301909.RATojt_mXJH5cq-1PMpzzNDFPTuDn-xypHHQHHzl5Iq9k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP301909.RATojt_mXJH5cq-1PMpzzNDFPTuDn-xypHHQHHzl5Iq9k130_assertion
a
np:Assertion
.
dgn-np:NP301909.RATojt_mXJH5cq-1PMpzzNDFPTuDn-xypHHQHHzl5Iq9k130_provenance
a
np:Provenance
.
dgn-np:NP301909.RATojt_mXJH5cq-1PMpzzNDFPTuDn-xypHHQHHzl5Iq9k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP301909.RATojt_mXJH5cq-1PMpzzNDFPTuDn-xypHHQHHzl5Iq9k130_assertion
{
miriam-gene:8443
a
ncit:C16612
.
lld:C0282529
a
ncit:C7057
.
dgn-gda:DGNd40140adf817130a240b78561b7b653b
sio:SIO_000628
miriam-gene:8443
,
lld:C0282529
;
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sio:SIO_001121
.
}
dgn-np:NP301909.RATojt_mXJH5cq-1PMpzzNDFPTuDn-xypHHQHHzl5Iq9k130_provenance
{
dgn-np:NP301909.RATojt_mXJH5cq-1PMpzzNDFPTuDn-xypHHQHHzl5Iq9k130_assertion
dcterms:description
"[We used protein modeling to predict the structural consequences of AGPS mutations and transcript analysis to predict consequences of GNPAT mutations, and show that milder RCDP phenotypes are likely to be associated with residual protein function.]. 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:21990100
;
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:NP301909.RATojt_mXJH5cq-1PMpzzNDFPTuDn-xypHHQHHzl5Iq9k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:51+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: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
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"v2.1.0" .
}