@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP674350.RAhxawHinwUKbxm7R83r_aWL7SVwU3FyzvF5NPg5boZ5w
> .
@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:NP674350.RAhxawHinwUKbxm7R83r_aWL7SVwU3FyzvF5NPg5boZ5w130_head
{
this:
np:hasAssertion
dgn-np:NP674350.RAhxawHinwUKbxm7R83r_aWL7SVwU3FyzvF5NPg5boZ5w130_assertion
;
np:hasProvenance
dgn-np:NP674350.RAhxawHinwUKbxm7R83r_aWL7SVwU3FyzvF5NPg5boZ5w130_provenance
;
np:hasPublicationInfo
dgn-np:NP674350.RAhxawHinwUKbxm7R83r_aWL7SVwU3FyzvF5NPg5boZ5w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP674350.RAhxawHinwUKbxm7R83r_aWL7SVwU3FyzvF5NPg5boZ5w130_assertion
a
np:Assertion
.
dgn-np:NP674350.RAhxawHinwUKbxm7R83r_aWL7SVwU3FyzvF5NPg5boZ5w130_provenance
a
np:Provenance
.
dgn-np:NP674350.RAhxawHinwUKbxm7R83r_aWL7SVwU3FyzvF5NPg5boZ5w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP674350.RAhxawHinwUKbxm7R83r_aWL7SVwU3FyzvF5NPg5boZ5w130_assertion
{
miriam-gene:3908
a
ncit:C16612
.
lld:C1852502
a
ncit:C7057
.
dgn-gda:DGNfd52bb786dcdedb482e44c860fc2b17f
sio:SIO_000628
miriam-gene:3908
,
lld:C1852502
;
a
sio:SIO_001121
.
}
dgn-np:NP674350.RAhxawHinwUKbxm7R83r_aWL7SVwU3FyzvF5NPg5boZ5w130_provenance
{
dgn-np:NP674350.RAhxawHinwUKbxm7R83r_aWL7SVwU3FyzvF5NPg5boZ5w130_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-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:NP674350.RAhxawHinwUKbxm7R83r_aWL7SVwU3FyzvF5NPg5boZ5w130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:51+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" .
}