@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1208602.RAhR-qrwmGOe4o7KhQJd_WMsrBfVL3_r4GyWMUDR7RtNI
> .
@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:NP1208602.RAhR-qrwmGOe4o7KhQJd_WMsrBfVL3_r4GyWMUDR7RtNI130_head
{
this:
np:hasAssertion
dgn-np:NP1208602.RAhR-qrwmGOe4o7KhQJd_WMsrBfVL3_r4GyWMUDR7RtNI130_assertion
;
np:hasProvenance
dgn-np:NP1208602.RAhR-qrwmGOe4o7KhQJd_WMsrBfVL3_r4GyWMUDR7RtNI130_provenance
;
np:hasPublicationInfo
dgn-np:NP1208602.RAhR-qrwmGOe4o7KhQJd_WMsrBfVL3_r4GyWMUDR7RtNI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1208602.RAhR-qrwmGOe4o7KhQJd_WMsrBfVL3_r4GyWMUDR7RtNI130_assertion
a
np:Assertion
.
dgn-np:NP1208602.RAhR-qrwmGOe4o7KhQJd_WMsrBfVL3_r4GyWMUDR7RtNI130_provenance
a
np:Provenance
.
dgn-np:NP1208602.RAhR-qrwmGOe4o7KhQJd_WMsrBfVL3_r4GyWMUDR7RtNI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1208602.RAhR-qrwmGOe4o7KhQJd_WMsrBfVL3_r4GyWMUDR7RtNI130_assertion
{
miriam-gene:183
a
ncit:C16612
.
lld:C0342751
a
ncit:C7057
.
dgn-gda:DGNc85c8309c520eae35ac77d259e2620ff
sio:SIO_000628
miriam-gene:183
,
lld:C0342751
;
a
sio:SIO_001121
.
}
dgn-np:NP1208602.RAhR-qrwmGOe4o7KhQJd_WMsrBfVL3_r4GyWMUDR7RtNI130_provenance
{
dgn-np:NP1208602.RAhR-qrwmGOe4o7KhQJd_WMsrBfVL3_r4GyWMUDR7RtNI130_assertion
dcterms:description
"[DNA was extracted and tested for GAA mutations and some genetic polymorphisms able to influence muscle properties (ACE, ACTN3, AGT and PPARα genes).We compared the polymorphisms analyzed in groups of patients with Pompe disease clustered for their homogeneous genotype.]. 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:25103075
;
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:NP1208602.RAhR-qrwmGOe4o7KhQJd_WMsrBfVL3_r4GyWMUDR7RtNI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:53+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}