@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1399063.RA73FjemG2dY8X4CxmkU6ft0I6PfYvU_j7JKxQPIfz1lw
> .
@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:NP1399063.RA73FjemG2dY8X4CxmkU6ft0I6PfYvU_j7JKxQPIfz1lw130_head
{
this:
np:hasAssertion
dgn-np:NP1399063.RA73FjemG2dY8X4CxmkU6ft0I6PfYvU_j7JKxQPIfz1lw130_assertion
;
np:hasProvenance
dgn-np:NP1399063.RA73FjemG2dY8X4CxmkU6ft0I6PfYvU_j7JKxQPIfz1lw130_provenance
;
np:hasPublicationInfo
dgn-np:NP1399063.RA73FjemG2dY8X4CxmkU6ft0I6PfYvU_j7JKxQPIfz1lw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1399063.RA73FjemG2dY8X4CxmkU6ft0I6PfYvU_j7JKxQPIfz1lw130_assertion
a
np:Assertion
.
dgn-np:NP1399063.RA73FjemG2dY8X4CxmkU6ft0I6PfYvU_j7JKxQPIfz1lw130_provenance
a
np:Provenance
.
dgn-np:NP1399063.RA73FjemG2dY8X4CxmkU6ft0I6PfYvU_j7JKxQPIfz1lw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1399063.RA73FjemG2dY8X4CxmkU6ft0I6PfYvU_j7JKxQPIfz1lw130_assertion
{
miriam-gene:2548
a
ncit:C16612
.
lld:C0017921
a
ncit:C7057
.
dgn-gda:DGN1507de3b071efe1b66b942f798059c15
sio:SIO_000628
miriam-gene:2548
,
lld:C0017921
;
a
sio:SIO_001122
.
}
dgn-np:NP1399063.RA73FjemG2dY8X4CxmkU6ft0I6PfYvU_j7JKxQPIfz1lw130_provenance
{
dgn-np:NP1399063.RA73FjemG2dY8X4CxmkU6ft0I6PfYvU_j7JKxQPIfz1lw130_assertion
dcterms:description
"[In nine Dutch patients with the infantile form of glycogen storage disease type II (GSDII), who were compound heterozygous for either 525delT or exon18del (1), sequence analysis was performed to search for the mutations in the second lysosomal alpha-glucosidase allele.]. 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:9660056
;
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:NP1399063.RA73FjemG2dY8X4CxmkU6ft0I6PfYvU_j7JKxQPIfz1lw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:20+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" .
}