@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ
> .
@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:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_head
{
this:
np:hasAssertion
dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_assertion
;
np:hasProvenance
dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_assertion
a
np:Assertion
.
dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_provenance
a
np:Provenance
.
dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_assertion
{
miriam-gene:1294
a
ncit:C16612
.
lld:C0079474
a
ncit:C7057
.
dgn-gda:DGN9cacaecc15a80a88fe2503b594c451ca
sio:SIO_000628
miriam-gene:1294
,
lld:C0079474
;
a
sio:SIO_001121
.
}
dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_provenance
{
dgn-np:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_assertion
dcterms:description
"[This finding expands the allelic series of COL7A1 mutations underlying mild recessive dystrophic epidermolysis bullosa (RDEB) and sheds further light upon regions of the type VII collagen triple helix that are tolerant of heterozygous glycine substitutions.]. 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:17229600
;
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:NP589223.RAQC4QokKq0UxKty5qo-PxjKkwy5LfIEuZrSvQJmS_7zQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:12+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" .
}