@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME
> .
@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:NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_head
{
this:
np:hasAssertion
dgn-np:NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_assertion
;
np:hasProvenance
dgn-np:NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_provenance
;
np:hasPublicationInfo
dgn-np:NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_assertion
a
np:Assertion
.
dgn-np:NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_provenance
a
np:Provenance
.
dgn-np:NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_assertion
{
miriam-gene:8647
a
ncit:C16612
.
lld:C0268312
a
ncit:C7057
.
dgn-gda:DGNcd35fa32bf097f990fd3adafb0129b7c
sio:SIO_000628
miriam-gene:8647
,
lld:C0268312
;
a
sio:SIO_001121
.
}
dgn-np:NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_provenance
{
dgn-np:NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_assertion
dcterms:description
"[Finally, in those children with cholestasis, high serum bile acids and low gamma glutamyltranspeptidase activity, analysis of mutation in FIC1 and bile salt export pump genes may lead to the diagnosis of progressive familial intrahepatic cholestasis either from bile salt export pump or FIC1 deficiency.]. 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:10975791
;
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:NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:59+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}