@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP358385.RANE6U-u8ODNPurhSlDov1K_5Prn5BGn4ZpH9EupZt_fk
> .
@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:NP358385.RANE6U-u8ODNPurhSlDov1K_5Prn5BGn4ZpH9EupZt_fk130_head
{
this:
np:hasAssertion
dgn-np:NP358385.RANE6U-u8ODNPurhSlDov1K_5Prn5BGn4ZpH9EupZt_fk130_assertion
;
np:hasProvenance
dgn-np:NP358385.RANE6U-u8ODNPurhSlDov1K_5Prn5BGn4ZpH9EupZt_fk130_provenance
;
np:hasPublicationInfo
dgn-np:NP358385.RANE6U-u8ODNPurhSlDov1K_5Prn5BGn4ZpH9EupZt_fk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP358385.RANE6U-u8ODNPurhSlDov1K_5Prn5BGn4ZpH9EupZt_fk130_assertion
a
np:Assertion
.
dgn-np:NP358385.RANE6U-u8ODNPurhSlDov1K_5Prn5BGn4ZpH9EupZt_fk130_provenance
a
np:Provenance
.
dgn-np:NP358385.RANE6U-u8ODNPurhSlDov1K_5Prn5BGn4ZpH9EupZt_fk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP358385.RANE6U-u8ODNPurhSlDov1K_5Prn5BGn4ZpH9EupZt_fk130_assertion
{
miriam-gene:1756
a
ncit:C16612
.
lld:C0917713
a
ncit:C7057
.
dgn-gda:DGN5eb130413ec8aeec02739fd2a7ac960c
sio:SIO_000628
miriam-gene:1756
,
lld:C0917713
;
a
sio:SIO_001121
.
}
dgn-np:NP358385.RANE6U-u8ODNPurhSlDov1K_5Prn5BGn4ZpH9EupZt_fk130_provenance
{
dgn-np:NP358385.RANE6U-u8ODNPurhSlDov1K_5Prn5BGn4ZpH9EupZt_fk130_assertion
dcterms:description
"[Deletions and point mutations in the dystrophin gene cause either the severe progressive myopathy Duchenne muscular dystrophy (DMD) or the milder Becker muscular dystrophy, depending on whether the translational reading frame is lost or maintained.]. 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:12077324
;
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:NP358385.RANE6U-u8ODNPurhSlDov1K_5Prn5BGn4ZpH9EupZt_fk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:27+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" .
}