@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP861651.RAX2XEu0WZAof9RGtOyju3PNC1NQfsxRZJ45ZQTu_zgZ0
> .
@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:NP861651.RAX2XEu0WZAof9RGtOyju3PNC1NQfsxRZJ45ZQTu_zgZ0130_head
{
this:
np:hasAssertion
dgn-np:NP861651.RAX2XEu0WZAof9RGtOyju3PNC1NQfsxRZJ45ZQTu_zgZ0130_assertion
;
np:hasProvenance
dgn-np:NP861651.RAX2XEu0WZAof9RGtOyju3PNC1NQfsxRZJ45ZQTu_zgZ0130_provenance
;
np:hasPublicationInfo
dgn-np:NP861651.RAX2XEu0WZAof9RGtOyju3PNC1NQfsxRZJ45ZQTu_zgZ0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP861651.RAX2XEu0WZAof9RGtOyju3PNC1NQfsxRZJ45ZQTu_zgZ0130_assertion
a
np:Assertion
.
dgn-np:NP861651.RAX2XEu0WZAof9RGtOyju3PNC1NQfsxRZJ45ZQTu_zgZ0130_provenance
a
np:Provenance
.
dgn-np:NP861651.RAX2XEu0WZAof9RGtOyju3PNC1NQfsxRZJ45ZQTu_zgZ0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP861651.RAX2XEu0WZAof9RGtOyju3PNC1NQfsxRZJ45ZQTu_zgZ0130_assertion
{
miriam-gene:203859
a
ncit:C16612
.
lld:C0026850
a
ncit:C7057
.
dgn-gda:DGNf54995062f897f2958320812af29da16
sio:SIO_000628
miriam-gene:203859
,
lld:C0026850
;
a
sio:SIO_001122
.
}
dgn-np:NP861651.RAX2XEu0WZAof9RGtOyju3PNC1NQfsxRZJ45ZQTu_zgZ0130_provenance
{
dgn-np:NP861651.RAX2XEu0WZAof9RGtOyju3PNC1NQfsxRZJ45ZQTu_zgZ0130_assertion
dcterms:description
"[We suggest that mutations in ANO5 represent a relatively common cause of adult onset muscular dystrophy with high serum creatine kinase and that mutation screening, particularly of the common mutation c.191dupA, should be an early step in the diagnostic algorithm of adult limb-girdle muscular dystrophy patients.]. 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:21186264
;
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:NP861651.RAX2XEu0WZAof9RGtOyju3PNC1NQfsxRZJ45ZQTu_zgZ0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:15+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" .
}