@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP976806.RAINqySOXTY4B98QyKEb3tjQ6jDiGPGqKyNf8U-cciJ3w
> .
@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:NP976806.RAINqySOXTY4B98QyKEb3tjQ6jDiGPGqKyNf8U-cciJ3w130_head
{
this:
np:hasAssertion
dgn-np:NP976806.RAINqySOXTY4B98QyKEb3tjQ6jDiGPGqKyNf8U-cciJ3w130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP976806.RAINqySOXTY4B98QyKEb3tjQ6jDiGPGqKyNf8U-cciJ3w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP976806.RAINqySOXTY4B98QyKEb3tjQ6jDiGPGqKyNf8U-cciJ3w130_assertion
a
np:Assertion
.
dgn-np:NP976806.RAINqySOXTY4B98QyKEb3tjQ6jDiGPGqKyNf8U-cciJ3w130_provenance
a
np:Provenance
.
dgn-np:NP976806.RAINqySOXTY4B98QyKEb3tjQ6jDiGPGqKyNf8U-cciJ3w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP976806.RAINqySOXTY4B98QyKEb3tjQ6jDiGPGqKyNf8U-cciJ3w130_assertion
{
miriam-gene:51365
a
ncit:C16612
.
lld:C0027868
a
ncit:C7057
.
dgn-gda:DGN3cb42b3775340a92b999e3ecfe64237e
sio:SIO_000628
miriam-gene:51365
,
lld:C0027868
;
a
sio:SIO_001121
.
}
dgn-np:NP976806.RAINqySOXTY4B98QyKEb3tjQ6jDiGPGqKyNf8U-cciJ3w130_provenance
{
dgn-np:NP976806.RAINqySOXTY4B98QyKEb3tjQ6jDiGPGqKyNf8U-cciJ3w130_assertion
dcterms:description
"[We designed a capture library to target the coding and splice site sequences of all known NMD genes and used NGS and DNA multiplexing to retrieve the pathogenic mutations in patients with heterogeneous NMD with or without known mutations.]. 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:22526018
;
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:NP976806.RAINqySOXTY4B98QyKEb3tjQ6jDiGPGqKyNf8U-cciJ3w130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:07+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" .
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"v4.0.0" .
}