@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP262068.RA18LIr8awNyuS5-6FYIQaM2aoZLzwM3K6vUjiFnJJP64
> .
@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:NP262068.RA18LIr8awNyuS5-6FYIQaM2aoZLzwM3K6vUjiFnJJP64130_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:C0031485
a
ncit:C7057
.
dgn-gda:DGN6b7fe68e7efa7a631c141ee7df59f2b5
sio:SIO_000628
miriam-gene:5053
,
lld:C0031485
;
a
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.
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dgn-np:NP262068.RA18LIr8awNyuS5-6FYIQaM2aoZLzwM3K6vUjiFnJJP64130_provenance
{
dgn-np:NP262068.RA18LIr8awNyuS5-6FYIQaM2aoZLzwM3K6vUjiFnJJP64130_assertion
dcterms:description
"[In this study we have performed in vivo analyses of lymphocyte PAH mRNA from PKU patients homozygous for the PKU missense mutations P281L and R408Q as well as the nonsense mutations G272X and Y356X.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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sio:SIO_000772
miriam-pubmed:10471838
;
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;
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 .
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dgn-np:NP262068.RA18LIr8awNyuS5-6FYIQaM2aoZLzwM3K6vUjiFnJJP64130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:44+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
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pav:authoredBy
<
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> , <
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> , <
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
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"v4.0.0" .
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