@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP443203.RAvRcc2QutCMQVjLv-cIPxTSe-FxaDu3grpM6ffUGLphw
> .
@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/v3.0.0/void/
> .
dgn-np:NP443203.RAvRcc2QutCMQVjLv-cIPxTSe-FxaDu3grpM6ffUGLphw130_head
{
this:
np:hasAssertion
dgn-np:NP443203.RAvRcc2QutCMQVjLv-cIPxTSe-FxaDu3grpM6ffUGLphw130_assertion
;
np:hasProvenance
dgn-np:NP443203.RAvRcc2QutCMQVjLv-cIPxTSe-FxaDu3grpM6ffUGLphw130_provenance
;
np:hasPublicationInfo
dgn-np:NP443203.RAvRcc2QutCMQVjLv-cIPxTSe-FxaDu3grpM6ffUGLphw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP443203.RAvRcc2QutCMQVjLv-cIPxTSe-FxaDu3grpM6ffUGLphw130_assertion
a
np:Assertion
.
dgn-np:NP443203.RAvRcc2QutCMQVjLv-cIPxTSe-FxaDu3grpM6ffUGLphw130_provenance
a
np:Provenance
.
dgn-np:NP443203.RAvRcc2QutCMQVjLv-cIPxTSe-FxaDu3grpM6ffUGLphw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP443203.RAvRcc2QutCMQVjLv-cIPxTSe-FxaDu3grpM6ffUGLphw130_assertion
{
miriam-gene:3030
a
ncit:C16612
.
lld:C1969443
a
ncit:C7057
.
dgn-gda:DGN0a8e45a9f10ebe80a8167787702998c6
sio:SIO_000628
miriam-gene:3030
,
lld:C1969443
;
a
sio:SIO_001122
.
}
dgn-np:NP443203.RAvRcc2QutCMQVjLv-cIPxTSe-FxaDu3grpM6ffUGLphw130_provenance
{
dgn-np:NP443203.RAvRcc2QutCMQVjLv-cIPxTSe-FxaDu3grpM6ffUGLphw130_assertion
dcterms:description
"[Evidence that a common mutation in the alpha-subunit (LCHAD) of trifunctional protein, E474Q, is always one of the mutant alleles in fetal isolated LCHAD deficiency associated with these disorders of pregnancy that cause high maternal, fetal, and newborn morbidity and mortality is reviewed.]. 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:10331463
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP443203.RAvRcc2QutCMQVjLv-cIPxTSe-FxaDu3grpM6ffUGLphw130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:59+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}