@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
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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#
> .
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{
this:
np:hasAssertion
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;
np:hasProvenance
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np:hasPublicationInfo
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a
np:Nanopublication
.
dgn-np:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_assertion
a
np:Assertion
.
dgn-np:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_provenance
a
np:Provenance
.
dgn-np:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_publicationInfo
a
np:PublicationInfo
.
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dgn-np:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_assertion
{
miriam-gene:57498
a
ncit:C16612
.
lld:C0016751
a
ncit:C7057
.
dgn-gda:DGN5f32a6a27213542bef056dd2900ce9e3
sio:SIO_000628
miriam-gene:57498
,
lld:C0016751
;
a
sio:SIO_001121
.
}
dgn-np:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_provenance
{
dgn-np:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_assertion
dcterms:description
"[The mutant alleles can be readily detected in the amplification refractory mutation system (ARMS) or (for R59op and 3' intron 6) by digestion of amplified genomic fragments with DdeI or A1wNI, respectively, to facilitate direct diagnosis of HFI by molecular analysis of aldolase B genes.]. 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:8071980
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:03+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
<
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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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"v2.1.0" .
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