@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP616456.RA64hIF3-PWIKFf4Se0WdelUiYyjf1oVMSY3IArGdlCmQ
> .
@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:NP616456.RA64hIF3-PWIKFf4Se0WdelUiYyjf1oVMSY3IArGdlCmQ130_head
{
this:
np:hasAssertion
dgn-np:NP616456.RA64hIF3-PWIKFf4Se0WdelUiYyjf1oVMSY3IArGdlCmQ130_assertion
;
np:hasProvenance
dgn-np:NP616456.RA64hIF3-PWIKFf4Se0WdelUiYyjf1oVMSY3IArGdlCmQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP616456.RA64hIF3-PWIKFf4Se0WdelUiYyjf1oVMSY3IArGdlCmQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP616456.RA64hIF3-PWIKFf4Se0WdelUiYyjf1oVMSY3IArGdlCmQ130_assertion
a
np:Assertion
.
dgn-np:NP616456.RA64hIF3-PWIKFf4Se0WdelUiYyjf1oVMSY3IArGdlCmQ130_provenance
a
np:Provenance
.
dgn-np:NP616456.RA64hIF3-PWIKFf4Se0WdelUiYyjf1oVMSY3IArGdlCmQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP616456.RA64hIF3-PWIKFf4Se0WdelUiYyjf1oVMSY3IArGdlCmQ130_assertion
{
miriam-gene:3908
a
ncit:C16612
.
lld:C0270971
a
ncit:C7057
.
dgn-gda:DGNbd29aa77091e178b3f777db8a2df10f4
sio:SIO_000628
miriam-gene:3908
,
lld:C0270971
;
a
sio:SIO_001121
.
}
dgn-np:NP616456.RA64hIF3-PWIKFf4Se0WdelUiYyjf1oVMSY3IArGdlCmQ130_provenance
{
dgn-np:NP616456.RA64hIF3-PWIKFf4Se0WdelUiYyjf1oVMSY3IArGdlCmQ130_assertion
dcterms:description
"[The diagnosis of merosin-deficient CMD is based on the clinical findings of severe congenital hypotonia, weakness, with high blood levels of creatine kinase, WM abnormalities, and dystrophy associated with negative immunostaining of biopsied muscle for merosin.]. 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:18516331
;
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:NP616456.RA64hIF3-PWIKFf4Se0WdelUiYyjf1oVMSY3IArGdlCmQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:12+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" .
}