@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1332789.RAl3413ME-4hx6KgjhGYMG5axmcuAX5Yk7lZEOo0XpfEU
> .
@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/
> .
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{
this:
np:hasAssertion
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np:hasProvenance
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dgn-np:NP1332789.RAl3413ME-4hx6KgjhGYMG5axmcuAX5Yk7lZEOo0XpfEU130_publicationInfo
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a
np:Nanopublication
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a
np:Assertion
.
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a
np:Provenance
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{
miriam-gene:5053
a
ncit:C16612
.
lld:C0751434
a
ncit:C7057
.
dgn-gda:DGNc1fdc11ea89d6ae6f6eb9536133fb191
sio:SIO_000628
miriam-gene:5053
,
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;
a
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.
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dgn-np:NP1332789.RAl3413ME-4hx6KgjhGYMG5axmcuAX5Yk7lZEOo0XpfEU130_assertion
dcterms:description
"[In order to investigate the molecular basis of phenylketonuria (PKU) in Spain, we analyzed the restriction fragment length polymorphism (RFLP) haplotypes and common mutations in the phenylalanine hydroxylase (PAH) gene in 32 unrelated Spanish PKU families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
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sio:SIO_000772
miriam-pubmed:8104860
;
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;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
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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 .
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dgn-np:NP1332789.RAl3413ME-4hx6KgjhGYMG5axmcuAX5Yk7lZEOo0XpfEU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:50+02:00"^^
xsd:dateTime
;
dcterms:rights
<
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
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prv:usedData
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pav:authoredBy
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> , <
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> , <
http://orcid.org/0000-0002-9383-528X
> , <
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"v4.0.0" .
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