@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU
> .
@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:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_head
{
this:
np:hasAssertion
dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_assertion
;
np:hasProvenance
dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_provenance
;
np:hasPublicationInfo
dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_assertion
a
np:Assertion
.
dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_provenance
a
np:Provenance
.
dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_assertion
{
miriam-gene:5053
a
ncit:C16612
.
lld:C0751434
a
ncit:C7057
.
dgn-gda:DGN92bf0c4f3afc789c63ffe18640c32a59
sio:SIO_000628
miriam-gene:5053
,
lld:C0751434
;
a
sio:SIO_001121
.
}
dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_provenance
{
dgn-np:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_assertion
dcterms:description
"[The proximal promoter region of the human phenylalanine hydroxylase (PAH) gene was analyzed for the presence of mutations in 122 European phenylketonuria (PKU) and hyperphenylalaninemia patients having altogether 187 uncharacterized mutant PAH alleles.]. 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:8081944
;
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:NP1331605.RAKkbDj7qMpgz9mHKek9Hk9NGGavsDozc67fbsvR46ITU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:50+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" .
}