@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1303372.RAH_hFU4f4xBdLpfE9EDDzkAopbxQre-S5Yz1VJOA-pug
> .
@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:NP1303372.RAH_hFU4f4xBdLpfE9EDDzkAopbxQre-S5Yz1VJOA-pug130_head
{
this:
np:hasAssertion
dgn-np:NP1303372.RAH_hFU4f4xBdLpfE9EDDzkAopbxQre-S5Yz1VJOA-pug130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP1303372.RAH_hFU4f4xBdLpfE9EDDzkAopbxQre-S5Yz1VJOA-pug130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1303372.RAH_hFU4f4xBdLpfE9EDDzkAopbxQre-S5Yz1VJOA-pug130_assertion
a
np:Assertion
.
dgn-np:NP1303372.RAH_hFU4f4xBdLpfE9EDDzkAopbxQre-S5Yz1VJOA-pug130_provenance
a
np:Provenance
.
dgn-np:NP1303372.RAH_hFU4f4xBdLpfE9EDDzkAopbxQre-S5Yz1VJOA-pug130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1303372.RAH_hFU4f4xBdLpfE9EDDzkAopbxQre-S5Yz1VJOA-pug130_assertion
{
miriam-gene:5053
a
ncit:C16612
.
lld:C0751435
a
ncit:C7057
.
dgn-gda:DGNc780a8d4bdf1299fb855c35e65321c5a
sio:SIO_000628
miriam-gene:5053
,
lld:C0751435
;
a
sio:SIO_001121
.
}
dgn-np:NP1303372.RAH_hFU4f4xBdLpfE9EDDzkAopbxQre-S5Yz1VJOA-pug130_provenance
{
dgn-np:NP1303372.RAH_hFU4f4xBdLpfE9EDDzkAopbxQre-S5Yz1VJOA-pug130_assertion
dcterms:description
"[These results demonstrate that there are multiple and distinct mutations in the phenylalanine hydroxylase gene, with different levels of severity, and that various combinations of the mutant alleles can result in different phenotypes of the metabolic disorders of hyperphenylalaninemia.]. 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:3702929
;
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:NP1303372.RAH_hFU4f4xBdLpfE9EDDzkAopbxQre-S5Yz1VJOA-pug130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:36+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
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;
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" .
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pav:version
"v4.0.0" .
}