@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP459689.RASyPq55kFEbXJWErfTMqs3-bOHsj27aReR36thk3BCWE
> .
@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#
> .
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{
this:
np:hasAssertion
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;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP459689.RASyPq55kFEbXJWErfTMqs3-bOHsj27aReR36thk3BCWE130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP459689.RASyPq55kFEbXJWErfTMqs3-bOHsj27aReR36thk3BCWE130_assertion
a
np:Assertion
.
dgn-np:NP459689.RASyPq55kFEbXJWErfTMqs3-bOHsj27aReR36thk3BCWE130_provenance
a
np:Provenance
.
dgn-np:NP459689.RASyPq55kFEbXJWErfTMqs3-bOHsj27aReR36thk3BCWE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP459689.RASyPq55kFEbXJWErfTMqs3-bOHsj27aReR36thk3BCWE130_assertion
{
miriam-gene:1294
a
ncit:C16612
.
lld:C1458156
a
ncit:C7057
.
dgn-gda:DGN8f71d2b1ce6f594afea62ff24804c6f6
sio:SIO_000628
miriam-gene:1294
,
lld:C1458156
;
a
sio:SIO_001121
.
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dgn-np:NP459689.RASyPq55kFEbXJWErfTMqs3-bOHsj27aReR36thk3BCWE130_provenance
{
dgn-np:NP459689.RASyPq55kFEbXJWErfTMqs3-bOHsj27aReR36thk3BCWE130_assertion
dcterms:description
"[These cases illustrate the consequences of COL7A1 glycine substitution mutations underlying DEB in terms of the mode of inheritance and the phenotype, with profound implications for genetic counseling of individuals at risk for recurrence of DEB in subsequent offspring or future generations.]. 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:9008239
;
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:NP459689.RASyPq55kFEbXJWErfTMqs3-bOHsj27aReR36thk3BCWE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:34+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
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pav:authoredBy
<
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> , <
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http://orcid.org/0000-0002-9383-528X
> , <
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> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
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"v2.1.0" .
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