@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc
> .
@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/v3.0.0/void/
> .
dgn-np:NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_head
{
this:
np:hasAssertion
dgn-np:NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_assertion
;
np:hasProvenance
dgn-np:NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_provenance
;
np:hasPublicationInfo
dgn-np:NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_assertion
a
np:Assertion
.
dgn-np:NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_provenance
a
np:Provenance
.
dgn-np:NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_assertion
{
miriam-gene:1308
a
ncit:C16612
.
lld:C0014527
a
ncit:C7057
.
dgn-gda:DGN286a4d00ee9da015ad24fe8b194fddd5
sio:SIO_000628
miriam-gene:1308
,
lld:C0014527
;
a
sio:SIO_001122
.
}
dgn-np:NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_provenance
{
dgn-np:NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_assertion
dcterms:description
"[The homozygous nonsense mutations in the COL17A1 gene were consistent with the absence of the collagen from the skin and with the GABEB phenotype, whereas homozygosity for the missense mutation resulted in expression of aberrant collagen XVII and, clinically, in localisata JEB.]. 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:9199555
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP321163.RAgW2NIgrUF32jk-n3e7q7jApL6uiR0QVCd_-rVYiCfSc130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:44+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}