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http://rdf.disgenet.org/nanopublications.trig#NP705915.RAYczrsnU9z1ez90eD0wrLm9HUl3XYWTNOTBi_DORqaMc
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP705915.RAYczrsnU9z1ez90eD0wrLm9HUl3XYWTNOTBi_DORqaMc130_assertion
;
np:hasProvenance
dgn-np:NP705915.RAYczrsnU9z1ez90eD0wrLm9HUl3XYWTNOTBi_DORqaMc130_provenance
;
np:hasPublicationInfo
dgn-np:NP705915.RAYczrsnU9z1ez90eD0wrLm9HUl3XYWTNOTBi_DORqaMc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP705915.RAYczrsnU9z1ez90eD0wrLm9HUl3XYWTNOTBi_DORqaMc130_assertion
a
np:Assertion
.
dgn-np:NP705915.RAYczrsnU9z1ez90eD0wrLm9HUl3XYWTNOTBi_DORqaMc130_provenance
a
np:Provenance
.
dgn-np:NP705915.RAYczrsnU9z1ez90eD0wrLm9HUl3XYWTNOTBi_DORqaMc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP705915.RAYczrsnU9z1ez90eD0wrLm9HUl3XYWTNOTBi_DORqaMc130_assertion
{
miriam-gene:5726
a
ncit:C16612
.
lld:C0432322
a
ncit:C7057
.
dgn-gda:DGNf2c23d1abe632fe4b937effdbc196401
sio:SIO_000628
miriam-gene:5726
,
lld:C0432322
;
a
sio:SIO_001121
.
}
dgn-np:NP705915.RAYczrsnU9z1ez90eD0wrLm9HUl3XYWTNOTBi_DORqaMc130_provenance
{
dgn-np:NP705915.RAYczrsnU9z1ez90eD0wrLm9HUl3XYWTNOTBi_DORqaMc130_assertion
dcterms:description
"[Mutations in DDEB identified thus far are glycine substitutions in the collagenous domain of COL7A1, while the most severe forms of RDEB result from premature termination codon (PTC) mutations on both alleles.]. 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:8644730
;
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 .
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dgn-np:NP705915.RAYczrsnU9z1ez90eD0wrLm9HUl3XYWTNOTBi_DORqaMc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:09+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" .
}