@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP337508.RAO8hBqNFd60Ow7yNHmDUZ4t-DQUWR3uMdrBwgDJe8WEA
> .
@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:NP337508.RAO8hBqNFd60Ow7yNHmDUZ4t-DQUWR3uMdrBwgDJe8WEA130_head
{
this:
np:hasAssertion
dgn-np:NP337508.RAO8hBqNFd60Ow7yNHmDUZ4t-DQUWR3uMdrBwgDJe8WEA130_assertion
;
np:hasProvenance
dgn-np:NP337508.RAO8hBqNFd60Ow7yNHmDUZ4t-DQUWR3uMdrBwgDJe8WEA130_provenance
;
np:hasPublicationInfo
dgn-np:NP337508.RAO8hBqNFd60Ow7yNHmDUZ4t-DQUWR3uMdrBwgDJe8WEA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP337508.RAO8hBqNFd60Ow7yNHmDUZ4t-DQUWR3uMdrBwgDJe8WEA130_assertion
a
np:Assertion
.
dgn-np:NP337508.RAO8hBqNFd60Ow7yNHmDUZ4t-DQUWR3uMdrBwgDJe8WEA130_provenance
a
np:Provenance
.
dgn-np:NP337508.RAO8hBqNFd60Ow7yNHmDUZ4t-DQUWR3uMdrBwgDJe8WEA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP337508.RAO8hBqNFd60Ow7yNHmDUZ4t-DQUWR3uMdrBwgDJe8WEA130_assertion
{
miriam-gene:5053
a
ncit:C16612
.
lld:C0751434
a
ncit:C7057
.
dgn-gda:DGNee85a240cbeebaa1e4ab764b2e306c75
sio:SIO_000628
miriam-gene:5053
,
lld:C0751434
;
a
sio:SIO_001121
.
}
dgn-np:NP337508.RAO8hBqNFd60Ow7yNHmDUZ4t-DQUWR3uMdrBwgDJe8WEA130_provenance
{
dgn-np:NP337508.RAO8hBqNFd60Ow7yNHmDUZ4t-DQUWR3uMdrBwgDJe8WEA130_assertion
dcterms:description
"[An extensive evaluation for the usual causes of these difficulties was unrevealing, but her serum phenylalanine concentration was markedly elevated and genetic analysis demonstrated mutations in the phenylalanine hydroxylase gene consistent with classic phenylketonuria.]. 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:11723206
;
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:NP337508.RAO8hBqNFd60Ow7yNHmDUZ4t-DQUWR3uMdrBwgDJe8WEA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:18+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" .
}