@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ
> .
@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/v3.0.0/void/
> .
dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_head
{
this:
np:hasAssertion
dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_assertion
;
np:hasProvenance
dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_assertion
a
np:Assertion
.
dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_provenance
a
np:Provenance
.
dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_assertion
{
miriam-gene:178
a
ncit:C16612
.
lld:C1968739
a
ncit:C7057
.
dgn-gda:DGNc91ff35d70fc51432c43e2246ae6d58d
sio:SIO_000628
miriam-gene:178
,
lld:C1968739
;
a
sio:SIO_001121
.
}
dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_provenance
{
dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_assertion
dcterms:description
"[The spectrum of AGL mutations in GSD IIIa patients depends on ethnic group-prevalent mutations have been reported in the North African Jewish population and in an isolate such as the Faroe islands, because of the founder effect, whereas heterogeneous mutations are responsible for the pathogenesis in Japanese patients.]. 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:16189622
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:39:50+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}