@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI
> .
@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 np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_head
{
this:
np:hasAssertion
dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_assertion
;
np:hasProvenance
dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_provenance
;
np:hasPublicationInfo
dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_assertion
a
np:Assertion
.
dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_provenance
a
np:Provenance
.
dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_assertion
{
miriam-gene:1294
a
ncit:C16612
.
lld:C0432322
a
ncit:C7057
.
dgn-gda:DGN6d1e85b18fe23b1fc2035a56e1119a98
sio:SIO_000628
miriam-gene:1294
,
lld:C0432322
;
a
sio:SIO_001122
.
}
dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_provenance
{
dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_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_curated
;
sio:SIO_000772
miriam-pubmed:10232408
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:50+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" .
}