@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP298559.RA-2RMnFiTqFkjv19RlfC_1I1VrZJ0Lmg1ACEg3qsptJ4
> .
@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:NP298559.RA-2RMnFiTqFkjv19RlfC_1I1VrZJ0Lmg1ACEg3qsptJ4130_head
{
this:
np:hasAssertion
dgn-np:NP298559.RA-2RMnFiTqFkjv19RlfC_1I1VrZJ0Lmg1ACEg3qsptJ4130_assertion
;
np:hasProvenance
dgn-np:NP298559.RA-2RMnFiTqFkjv19RlfC_1I1VrZJ0Lmg1ACEg3qsptJ4130_provenance
;
np:hasPublicationInfo
dgn-np:NP298559.RA-2RMnFiTqFkjv19RlfC_1I1VrZJ0Lmg1ACEg3qsptJ4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP298559.RA-2RMnFiTqFkjv19RlfC_1I1VrZJ0Lmg1ACEg3qsptJ4130_assertion
a
np:Assertion
.
dgn-np:NP298559.RA-2RMnFiTqFkjv19RlfC_1I1VrZJ0Lmg1ACEg3qsptJ4130_provenance
a
np:Provenance
.
dgn-np:NP298559.RA-2RMnFiTqFkjv19RlfC_1I1VrZJ0Lmg1ACEg3qsptJ4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP298559.RA-2RMnFiTqFkjv19RlfC_1I1VrZJ0Lmg1ACEg3qsptJ4130_assertion
{
miriam-gene:4920
a
ncit:C16612
.
lld:C1849334
a
ncit:C7057
.
dgn-gda:DGN79035369a01e5c19d32c77dec83d0725
sio:SIO_000628
miriam-gene:4920
,
lld:C1849334
;
a
sio:SIO_001121
.
}
dgn-np:NP298559.RA-2RMnFiTqFkjv19RlfC_1I1VrZJ0Lmg1ACEg3qsptJ4130_provenance
{
dgn-np:NP298559.RA-2RMnFiTqFkjv19RlfC_1I1VrZJ0Lmg1ACEg3qsptJ4130_assertion
dcterms:description
"[BDB1-causing mutations in ROR2 result from heterozygous premature termination codons (PTCs) in downstream exons and the conveyed phenotype segregates as an autosomal dominant trait, whereas heterozygous missense mutations and PTCs in upstream exons result in carrier status for RRS.]. 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:19236432
;
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:NP298559.RA-2RMnFiTqFkjv19RlfC_1I1VrZJ0Lmg1ACEg3qsptJ4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:49+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" .
}