@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP853125.RALKeoYKb6AVuxlwL7CciAZ8QGMrk9kQAQqtwMI26m8c0
> .
@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:NP853125.RALKeoYKb6AVuxlwL7CciAZ8QGMrk9kQAQqtwMI26m8c0130_head
{
this:
np:hasAssertion
dgn-np:NP853125.RALKeoYKb6AVuxlwL7CciAZ8QGMrk9kQAQqtwMI26m8c0130_assertion
;
np:hasProvenance
dgn-np:NP853125.RALKeoYKb6AVuxlwL7CciAZ8QGMrk9kQAQqtwMI26m8c0130_provenance
;
np:hasPublicationInfo
dgn-np:NP853125.RALKeoYKb6AVuxlwL7CciAZ8QGMrk9kQAQqtwMI26m8c0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP853125.RALKeoYKb6AVuxlwL7CciAZ8QGMrk9kQAQqtwMI26m8c0130_assertion
a
np:Assertion
.
dgn-np:NP853125.RALKeoYKb6AVuxlwL7CciAZ8QGMrk9kQAQqtwMI26m8c0130_provenance
a
np:Provenance
.
dgn-np:NP853125.RALKeoYKb6AVuxlwL7CciAZ8QGMrk9kQAQqtwMI26m8c0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP853125.RALKeoYKb6AVuxlwL7CciAZ8QGMrk9kQAQqtwMI26m8c0130_assertion
{
miriam-gene:2218
a
ncit:C16612
.
lld:C2827469
a
ncit:C7057
.
dgn-gda:DGNc485dbe25f7f17dec0742bb69f27b0d6
sio:SIO_000628
miriam-gene:2218
,
lld:C2827469
;
a
sio:SIO_001121
.
}
dgn-np:NP853125.RALKeoYKb6AVuxlwL7CciAZ8QGMrk9kQAQqtwMI26m8c0130_provenance
{
dgn-np:NP853125.RALKeoYKb6AVuxlwL7CciAZ8QGMrk9kQAQqtwMI26m8c0130_assertion
dcterms:description
"[CMDs associated with brain malformations such as MEB, WWS and FCMD are heterogenous in clinical presentation and on radiologic examination, suggesting that POMGnT1 assays of muscle biopsies should be used as a screening procedure for MEB in all CMD patients associated with brain malformations.]. 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:12849864
;
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:NP853125.RALKeoYKb6AVuxlwL7CciAZ8QGMrk9kQAQqtwMI26m8c0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:42+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" .
}