@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP838510.RAAwYPBC5hAY8IWK9r511ym8f24VABSRuqS675mHe4q4I
> .
@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:NP838510.RAAwYPBC5hAY8IWK9r511ym8f24VABSRuqS675mHe4q4I130_head
{
this:
np:hasAssertion
dgn-np:NP838510.RAAwYPBC5hAY8IWK9r511ym8f24VABSRuqS675mHe4q4I130_assertion
;
np:hasProvenance
dgn-np:NP838510.RAAwYPBC5hAY8IWK9r511ym8f24VABSRuqS675mHe4q4I130_provenance
;
np:hasPublicationInfo
dgn-np:NP838510.RAAwYPBC5hAY8IWK9r511ym8f24VABSRuqS675mHe4q4I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP838510.RAAwYPBC5hAY8IWK9r511ym8f24VABSRuqS675mHe4q4I130_assertion
a
np:Assertion
.
dgn-np:NP838510.RAAwYPBC5hAY8IWK9r511ym8f24VABSRuqS675mHe4q4I130_provenance
a
np:Provenance
.
dgn-np:NP838510.RAAwYPBC5hAY8IWK9r511ym8f24VABSRuqS675mHe4q4I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP838510.RAAwYPBC5hAY8IWK9r511ym8f24VABSRuqS675mHe4q4I130_assertion
{
miriam-gene:2632
a
ncit:C16612
.
lld:C0270971
a
ncit:C7057
.
dgn-gda:DGN40e2f40596284a50babf9880aac99144
sio:SIO_000628
miriam-gene:2632
,
lld:C0270971
;
a
sio:SIO_001121
.
}
dgn-np:NP838510.RAAwYPBC5hAY8IWK9r511ym8f24VABSRuqS675mHe4q4I130_provenance
{
dgn-np:NP838510.RAAwYPBC5hAY8IWK9r511ym8f24VABSRuqS675mHe4q4I130_assertion
dcterms:description
"[This case confirms previous observations that GBE deficiency ought to be included in the differential diagnosis of congenital hypotonia and that the phenotype correlates with the 'molecular severity' of the mutation.]. 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:20833045
;
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:NP838510.RAAwYPBC5hAY8IWK9r511ym8f24VABSRuqS675mHe4q4I130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:05+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" .
}