@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP804783.RAfdzKUqnUiOXE3KBXKBvYhvCgMSCN7jnTOfsU1m_Qo70
> .
@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:NP804783.RAfdzKUqnUiOXE3KBXKBvYhvCgMSCN7jnTOfsU1m_Qo70130_head
{
this:
np:hasAssertion
dgn-np:NP804783.RAfdzKUqnUiOXE3KBXKBvYhvCgMSCN7jnTOfsU1m_Qo70130_assertion
;
np:hasProvenance
dgn-np:NP804783.RAfdzKUqnUiOXE3KBXKBvYhvCgMSCN7jnTOfsU1m_Qo70130_provenance
;
np:hasPublicationInfo
dgn-np:NP804783.RAfdzKUqnUiOXE3KBXKBvYhvCgMSCN7jnTOfsU1m_Qo70130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP804783.RAfdzKUqnUiOXE3KBXKBvYhvCgMSCN7jnTOfsU1m_Qo70130_assertion
a
np:Assertion
.
dgn-np:NP804783.RAfdzKUqnUiOXE3KBXKBvYhvCgMSCN7jnTOfsU1m_Qo70130_provenance
a
np:Provenance
.
dgn-np:NP804783.RAfdzKUqnUiOXE3KBXKBvYhvCgMSCN7jnTOfsU1m_Qo70130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP804783.RAfdzKUqnUiOXE3KBXKBvYhvCgMSCN7jnTOfsU1m_Qo70130_assertion
{
miriam-gene:1294
a
ncit:C16612
.
lld:C0007137
a
ncit:C7057
.
dgn-gda:DGN402c244dc79257f8c1047c19a66e51ee
sio:SIO_000628
miriam-gene:1294
,
lld:C0007137
;
a
sio:SIO_001121
.
}
dgn-np:NP804783.RAfdzKUqnUiOXE3KBXKBvYhvCgMSCN7jnTOfsU1m_Qo70130_provenance
{
dgn-np:NP804783.RAfdzKUqnUiOXE3KBXKBvYhvCgMSCN7jnTOfsU1m_Qo70130_assertion
dcterms:description
"[Specifically, a large DDEB family with 2 individuals being affected with SCC was analyzed for potential mutations in the type VII collagen gene (COL7A1) by heteroduplex scanning and direct nucleotide sequencing of PCR amplified segments of the gene.]. 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:10232408
;
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:NP804783.RAfdzKUqnUiOXE3KBXKBvYhvCgMSCN7jnTOfsU1m_Qo70130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:13+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" .
}