@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP530905.RAVyy3-94budP-XAsSSLPG7OG_NoncXxeVlrMD45TMr1g
> .
@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/v3.0.0/void/
> .
dgn-np:NP530905.RAVyy3-94budP-XAsSSLPG7OG_NoncXxeVlrMD45TMr1g130_head
{
this:
np:hasAssertion
dgn-np:NP530905.RAVyy3-94budP-XAsSSLPG7OG_NoncXxeVlrMD45TMr1g130_assertion
;
np:hasProvenance
dgn-np:NP530905.RAVyy3-94budP-XAsSSLPG7OG_NoncXxeVlrMD45TMr1g130_provenance
;
np:hasPublicationInfo
dgn-np:NP530905.RAVyy3-94budP-XAsSSLPG7OG_NoncXxeVlrMD45TMr1g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP530905.RAVyy3-94budP-XAsSSLPG7OG_NoncXxeVlrMD45TMr1g130_assertion
a
np:Assertion
.
dgn-np:NP530905.RAVyy3-94budP-XAsSSLPG7OG_NoncXxeVlrMD45TMr1g130_provenance
a
np:Provenance
.
dgn-np:NP530905.RAVyy3-94budP-XAsSSLPG7OG_NoncXxeVlrMD45TMr1g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP530905.RAVyy3-94budP-XAsSSLPG7OG_NoncXxeVlrMD45TMr1g130_assertion
{
miriam-gene:3918
a
ncit:C16612
.
lld:C0026499
a
ncit:C7057
.
dgn-gda:DGN7f5b60b93a395f2c5583ba51c68c6801
sio:SIO_000628
miriam-gene:3918
,
lld:C0026499
;
a
sio:SIO_001122
.
}
dgn-np:NP530905.RAVyy3-94budP-XAsSSLPG7OG_NoncXxeVlrMD45TMr1g130_provenance
{
dgn-np:NP530905.RAVyy3-94budP-XAsSSLPG7OG_NoncXxeVlrMD45TMr1g130_assertion
dcterms:description
"[Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue.]. 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:10951251
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP530905.RAVyy3-94budP-XAsSSLPG7OG_NoncXxeVlrMD45TMr1g130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:42:54+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}