@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP53374.RAQe7tNoqJMg7KRyOVO3-3n0LnAuRx5QUG46zH0lkTPQI
> .
@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#
> .
dgn-np:NP53374.RAQe7tNoqJMg7KRyOVO3-3n0LnAuRx5QUG46zH0lkTPQI130_head
{
this:
np:hasAssertion
dgn-np:NP53374.RAQe7tNoqJMg7KRyOVO3-3n0LnAuRx5QUG46zH0lkTPQI130_assertion
;
np:hasProvenance
dgn-np:NP53374.RAQe7tNoqJMg7KRyOVO3-3n0LnAuRx5QUG46zH0lkTPQI130_provenance
;
np:hasPublicationInfo
dgn-np:NP53374.RAQe7tNoqJMg7KRyOVO3-3n0LnAuRx5QUG46zH0lkTPQI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP53374.RAQe7tNoqJMg7KRyOVO3-3n0LnAuRx5QUG46zH0lkTPQI130_assertion
a
np:Assertion
.
dgn-np:NP53374.RAQe7tNoqJMg7KRyOVO3-3n0LnAuRx5QUG46zH0lkTPQI130_provenance
a
np:Provenance
.
dgn-np:NP53374.RAQe7tNoqJMg7KRyOVO3-3n0LnAuRx5QUG46zH0lkTPQI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP53374.RAQe7tNoqJMg7KRyOVO3-3n0LnAuRx5QUG46zH0lkTPQI130_assertion
{
miriam-gene:5053
a
ncit:C16612
.
lld:C0031485
a
ncit:C7057
.
dgn-gda:DGN4440a4bd73b89b75ebcfc3492bad0960
sio:SIO_000628
miriam-gene:5053
,
lld:C0031485
;
a
sio:SIO_001122
.
}
dgn-np:NP53374.RAQe7tNoqJMg7KRyOVO3-3n0LnAuRx5QUG46zH0lkTPQI130_provenance
{
dgn-np:NP53374.RAQe7tNoqJMg7KRyOVO3-3n0LnAuRx5QUG46zH0lkTPQI130_assertion
dcterms:description
"[To investigate the characteristics of the phenylalanine hydroxylase (PAH) gene mutations in patients with phenylketonuria (PKU) in Henan province, China, in order for providing basic information for clinical genetic counseling and prenatal diagnosis.]. 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:21154324
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP53374.RAQe7tNoqJMg7KRyOVO3-3n0LnAuRx5QUG46zH0lkTPQI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:24+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
pav:version
"v2.1.0" .
}