@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP441768.RAdj7WnrRUx_IVWoPBHCIC3LpLOlshh3vyeJM_8UdS0mI
> .
@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:NP441768.RAdj7WnrRUx_IVWoPBHCIC3LpLOlshh3vyeJM_8UdS0mI130_head
{
this:
np:hasAssertion
dgn-np:NP441768.RAdj7WnrRUx_IVWoPBHCIC3LpLOlshh3vyeJM_8UdS0mI130_assertion
;
np:hasProvenance
dgn-np:NP441768.RAdj7WnrRUx_IVWoPBHCIC3LpLOlshh3vyeJM_8UdS0mI130_provenance
;
np:hasPublicationInfo
dgn-np:NP441768.RAdj7WnrRUx_IVWoPBHCIC3LpLOlshh3vyeJM_8UdS0mI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP441768.RAdj7WnrRUx_IVWoPBHCIC3LpLOlshh3vyeJM_8UdS0mI130_assertion
a
np:Assertion
.
dgn-np:NP441768.RAdj7WnrRUx_IVWoPBHCIC3LpLOlshh3vyeJM_8UdS0mI130_provenance
a
np:Provenance
.
dgn-np:NP441768.RAdj7WnrRUx_IVWoPBHCIC3LpLOlshh3vyeJM_8UdS0mI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP441768.RAdj7WnrRUx_IVWoPBHCIC3LpLOlshh3vyeJM_8UdS0mI130_assertion
{
miriam-gene:1294
a
ncit:C16612
.
lld:C0079474
a
ncit:C7057
.
dgn-gda:DGN347505910f704a7ded867b796292763d
sio:SIO_000628
miriam-gene:1294
,
lld:C0079474
;
a
sio:SIO_001121
.
}
dgn-np:NP441768.RAdj7WnrRUx_IVWoPBHCIC3LpLOlshh3vyeJM_8UdS0mI130_provenance
{
dgn-np:NP441768.RAdj7WnrRUx_IVWoPBHCIC3LpLOlshh3vyeJM_8UdS0mI130_assertion
dcterms:description
"[Glycine substitution mutations in COL7A1 not only cause dominant dystrophic epidermolysis bullosa (DDEB), but can also be silent mutations which lead to recessive dystrophic epidermolysis bullosa (RDEB) in combination with additional mutations in the other allele.]. 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:NP441768.RAdj7WnrRUx_IVWoPBHCIC3LpLOlshh3vyeJM_8UdS0mI130_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" .
}