@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP792063.RAMzSBgdZYNuJAfcVPKNYmMfYrUCZioY7nc8mju9w-K2M
> .
@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:NP792063.RAMzSBgdZYNuJAfcVPKNYmMfYrUCZioY7nc8mju9w-K2M130_head
{
this:
np:hasAssertion
dgn-np:NP792063.RAMzSBgdZYNuJAfcVPKNYmMfYrUCZioY7nc8mju9w-K2M130_assertion
;
np:hasProvenance
dgn-np:NP792063.RAMzSBgdZYNuJAfcVPKNYmMfYrUCZioY7nc8mju9w-K2M130_provenance
;
np:hasPublicationInfo
dgn-np:NP792063.RAMzSBgdZYNuJAfcVPKNYmMfYrUCZioY7nc8mju9w-K2M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP792063.RAMzSBgdZYNuJAfcVPKNYmMfYrUCZioY7nc8mju9w-K2M130_assertion
a
np:Assertion
.
dgn-np:NP792063.RAMzSBgdZYNuJAfcVPKNYmMfYrUCZioY7nc8mju9w-K2M130_provenance
a
np:Provenance
.
dgn-np:NP792063.RAMzSBgdZYNuJAfcVPKNYmMfYrUCZioY7nc8mju9w-K2M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP792063.RAMzSBgdZYNuJAfcVPKNYmMfYrUCZioY7nc8mju9w-K2M130_assertion
{
miriam-gene:551
a
ncit:C16612
.
lld:C0271592
a
ncit:C7057
.
dgn-gda:DGN4364180ef1b28e20987681a55cdbc9e4
sio:SIO_000628
miriam-gene:551
,
lld:C0271592
;
a
sio:SIO_001121
.
}
dgn-np:NP792063.RAMzSBgdZYNuJAfcVPKNYmMfYrUCZioY7nc8mju9w-K2M130_provenance
{
dgn-np:NP792063.RAMzSBgdZYNuJAfcVPKNYmMfYrUCZioY7nc8mju9w-K2M130_assertion
dcterms:description
"[The mutation also abolished an MspI site in the vasopressin sequence, and analysis of genomic DNA from eight members of the kindred (five with FDI) confirmed segregation of the mutation with the FDI phenotype.]. 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:9814475
;
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:NP792063.RAMzSBgdZYNuJAfcVPKNYmMfYrUCZioY7nc8mju9w-K2M130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:06+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" .
}