@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP632277.RAXMFNsXzcpiPe_kTmMneiwC-KCCDZBSK2M7DROz9KSoA
> .
@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:NP632277.RAXMFNsXzcpiPe_kTmMneiwC-KCCDZBSK2M7DROz9KSoA130_head
{
this:
np:hasAssertion
dgn-np:NP632277.RAXMFNsXzcpiPe_kTmMneiwC-KCCDZBSK2M7DROz9KSoA130_assertion
;
np:hasProvenance
dgn-np:NP632277.RAXMFNsXzcpiPe_kTmMneiwC-KCCDZBSK2M7DROz9KSoA130_provenance
;
np:hasPublicationInfo
dgn-np:NP632277.RAXMFNsXzcpiPe_kTmMneiwC-KCCDZBSK2M7DROz9KSoA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP632277.RAXMFNsXzcpiPe_kTmMneiwC-KCCDZBSK2M7DROz9KSoA130_assertion
a
np:Assertion
.
dgn-np:NP632277.RAXMFNsXzcpiPe_kTmMneiwC-KCCDZBSK2M7DROz9KSoA130_provenance
a
np:Provenance
.
dgn-np:NP632277.RAXMFNsXzcpiPe_kTmMneiwC-KCCDZBSK2M7DROz9KSoA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP632277.RAXMFNsXzcpiPe_kTmMneiwC-KCCDZBSK2M7DROz9KSoA130_assertion
{
miriam-gene:5373
a
ncit:C16612
.
lld:C2752007
a
ncit:C7057
.
dgn-gda:DGN471be5d82b7844e1d740a83782a8426e
sio:SIO_000628
miriam-gene:5373
,
lld:C2752007
;
a
sio:SIO_001121
.
}
dgn-np:NP632277.RAXMFNsXzcpiPe_kTmMneiwC-KCCDZBSK2M7DROz9KSoA130_provenance
{
dgn-np:NP632277.RAXMFNsXzcpiPe_kTmMneiwC-KCCDZBSK2M7DROz9KSoA130_assertion
dcterms:description
"[These findings suggest that the PMM2 is responsible for CDG1 in the Japanese as well as in Caucasians, and CDG1 may be the diagnosis in OPCA of neonatal onset, more often than currently thought.]. 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:10392743
;
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:NP632277.RAXMFNsXzcpiPe_kTmMneiwC-KCCDZBSK2M7DROz9KSoA130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:58+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" .
}