@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP552847.RAH7hc_JGMRgBrSDHoVPkOhQoOAgNxMlPtsdLDC1D9vzE
> .
@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:NP552847.RAH7hc_JGMRgBrSDHoVPkOhQoOAgNxMlPtsdLDC1D9vzE130_head
{
this:
np:hasAssertion
dgn-np:NP552847.RAH7hc_JGMRgBrSDHoVPkOhQoOAgNxMlPtsdLDC1D9vzE130_assertion
;
np:hasProvenance
dgn-np:NP552847.RAH7hc_JGMRgBrSDHoVPkOhQoOAgNxMlPtsdLDC1D9vzE130_provenance
;
np:hasPublicationInfo
dgn-np:NP552847.RAH7hc_JGMRgBrSDHoVPkOhQoOAgNxMlPtsdLDC1D9vzE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP552847.RAH7hc_JGMRgBrSDHoVPkOhQoOAgNxMlPtsdLDC1D9vzE130_assertion
a
np:Assertion
.
dgn-np:NP552847.RAH7hc_JGMRgBrSDHoVPkOhQoOAgNxMlPtsdLDC1D9vzE130_provenance
a
np:Provenance
.
dgn-np:NP552847.RAH7hc_JGMRgBrSDHoVPkOhQoOAgNxMlPtsdLDC1D9vzE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP552847.RAH7hc_JGMRgBrSDHoVPkOhQoOAgNxMlPtsdLDC1D9vzE130_assertion
{
miriam-gene:5053
a
ncit:C16612
.
lld:C0031485
a
ncit:C7057
.
dgn-gda:DGNbf0249ae1cb843b9546fc402580d8155
sio:SIO_000628
miriam-gene:5053
,
lld:C0031485
;
a
sio:SIO_001121
.
}
dgn-np:NP552847.RAH7hc_JGMRgBrSDHoVPkOhQoOAgNxMlPtsdLDC1D9vzE130_provenance
{
dgn-np:NP552847.RAH7hc_JGMRgBrSDHoVPkOhQoOAgNxMlPtsdLDC1D9vzE130_assertion
dcterms:description
"[The genetic heterogeneity at the phenylalanine hydroxylase (PAH) locus was studied in 88 families including 93 of the 105 children with phenylketonuria (PKU) or hyperphenylalaninemia (HPA) detected through the Swedish neonatal screening program from 1966 to the end of 1986.]. 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:1674714
;
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:NP552847.RAH7hc_JGMRgBrSDHoVPkOhQoOAgNxMlPtsdLDC1D9vzE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:55+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" .
}