@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP488666.RAX7RUkyEzpOR1485T6X9d1v9MYEsaf_Pu9bD5leawiA0
> .
@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#
> .
dgn-np:NP488666.RAX7RUkyEzpOR1485T6X9d1v9MYEsaf_Pu9bD5leawiA0130_head
{
this:
np:hasAssertion
dgn-np:NP488666.RAX7RUkyEzpOR1485T6X9d1v9MYEsaf_Pu9bD5leawiA0130_assertion
;
np:hasProvenance
dgn-np:NP488666.RAX7RUkyEzpOR1485T6X9d1v9MYEsaf_Pu9bD5leawiA0130_provenance
;
np:hasPublicationInfo
dgn-np:NP488666.RAX7RUkyEzpOR1485T6X9d1v9MYEsaf_Pu9bD5leawiA0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP488666.RAX7RUkyEzpOR1485T6X9d1v9MYEsaf_Pu9bD5leawiA0130_assertion
a
np:Assertion
.
dgn-np:NP488666.RAX7RUkyEzpOR1485T6X9d1v9MYEsaf_Pu9bD5leawiA0130_provenance
a
np:Provenance
.
dgn-np:NP488666.RAX7RUkyEzpOR1485T6X9d1v9MYEsaf_Pu9bD5leawiA0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP488666.RAX7RUkyEzpOR1485T6X9d1v9MYEsaf_Pu9bD5leawiA0130_assertion
{
miriam-gene:1294
a
ncit:C16612
.
lld:C0432322
a
ncit:C7057
.
dgn-gda:DGNb770963490522aa9e1b9163e5dbef1b2
sio:SIO_000628
miriam-gene:1294
,
lld:C0432322
;
a
sio:SIO_001121
.
}
dgn-np:NP488666.RAX7RUkyEzpOR1485T6X9d1v9MYEsaf_Pu9bD5leawiA0130_provenance
{
dgn-np:NP488666.RAX7RUkyEzpOR1485T6X9d1v9MYEsaf_Pu9bD5leawiA0130_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-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 .
}
dgn-np:NP488666.RAX7RUkyEzpOR1485T6X9d1v9MYEsaf_Pu9bD5leawiA0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:52+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" .
}