@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP257536.RA3M59dMSFPTL1K7ZuSMUe_RQDik-LoyBpXZqKBxsNb5c
> .
@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/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#
> .
dgn-np:NP257536.RA3M59dMSFPTL1K7ZuSMUe_RQDik-LoyBpXZqKBxsNb5c130_head
{
this:
np:hasAssertion
dgn-np:NP257536.RA3M59dMSFPTL1K7ZuSMUe_RQDik-LoyBpXZqKBxsNb5c130_assertion
;
np:hasProvenance
dgn-np:NP257536.RA3M59dMSFPTL1K7ZuSMUe_RQDik-LoyBpXZqKBxsNb5c130_provenance
;
np:hasPublicationInfo
dgn-np:NP257536.RA3M59dMSFPTL1K7ZuSMUe_RQDik-LoyBpXZqKBxsNb5c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP257536.RA3M59dMSFPTL1K7ZuSMUe_RQDik-LoyBpXZqKBxsNb5c130_assertion
a
np:Assertion
.
dgn-np:NP257536.RA3M59dMSFPTL1K7ZuSMUe_RQDik-LoyBpXZqKBxsNb5c130_provenance
a
np:Provenance
.
dgn-np:NP257536.RA3M59dMSFPTL1K7ZuSMUe_RQDik-LoyBpXZqKBxsNb5c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP257536.RA3M59dMSFPTL1K7ZuSMUe_RQDik-LoyBpXZqKBxsNb5c130_assertion
{
miriam-gene:2632
a
ncit:C16612
.
lld:C0017495
a
ncit:C7057
.
dgn-gda:DGNa2b3eaeb6becc355c1a8c7818470eb2a
sio:SIO_000628
miriam-gene:2632
,
lld:C0017495
;
a
sio:SIO_001121
.
}
dgn-np:NP257536.RA3M59dMSFPTL1K7ZuSMUe_RQDik-LoyBpXZqKBxsNb5c130_provenance
{
dgn-np:NP257536.RA3M59dMSFPTL1K7ZuSMUe_RQDik-LoyBpXZqKBxsNb5c130_assertion
dcterms:description
"[Normal skeletal muscle and liver tissue histology and GBE activity, normal GBE activity in skin fibroblasts, plus normal GBE gene sequence in this patient exclude the classical branching enzyme deficiency (type IV GSD).]. 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:15787805
;
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:NP257536.RA3M59dMSFPTL1K7ZuSMUe_RQDik-LoyBpXZqKBxsNb5c130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:24+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
<
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}