@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU
> .
@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:NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_head
{
this:
np:hasAssertion
dgn-np:NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_assertion
;
np:hasProvenance
dgn-np:NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_provenance
;
np:hasPublicationInfo
dgn-np:NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_assertion
a
np:Assertion
.
dgn-np:NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_provenance
a
np:Provenance
.
dgn-np:NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_assertion
{
miriam-gene:3918
a
ncit:C16612
.
lld:C1834741
a
ncit:C7057
.
dgn-gda:DGN5a39d4cedfcc18aa35812eb0c04890b7
sio:SIO_000628
miriam-gene:3918
,
lld:C1834741
;
a
sio:SIO_001121
.
}
dgn-np:NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_provenance
{
dgn-np:NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_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-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:NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:48+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" .
}