@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0
> .
@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:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_head
{
this:
np:hasAssertion
dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_assertion
;
np:hasProvenance
dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_provenance
;
np:hasPublicationInfo
dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_assertion
a
np:Assertion
.
dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_provenance
a
np:Provenance
.
dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_assertion
{
miriam-gene:1294
a
ncit:C16612
.
lld:C0014527
a
ncit:C7057
.
dgn-gda:DGN9fadfbd470fca2879a84bde9d1f6b6f3
sio:SIO_000628
miriam-gene:1294
,
lld:C0014527
;
a
sio:SIO_001121
.
}
dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_provenance
{
dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_assertion
dcterms:description
"[This paper has demonstrated for the first time that identical COL7A1 glycine substitutions can cause remarkably heterogeneous clinical phenotypes extending from simple toe nail dystrophy without skin fragility to typical DDEB and EB pruriginosa.]. 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:15113589
;
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:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:05+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" .
}