@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1382696.RAR5O69SXP_kxyEnNF9PzW_Ygytb7zAUrxuLNA3lSijHA
> .
@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/v4.0.0/void/
> .
dgn-np:NP1382696.RAR5O69SXP_kxyEnNF9PzW_Ygytb7zAUrxuLNA3lSijHA130_head
{
this:
np:hasAssertion
dgn-np:NP1382696.RAR5O69SXP_kxyEnNF9PzW_Ygytb7zAUrxuLNA3lSijHA130_assertion
;
np:hasProvenance
dgn-np:NP1382696.RAR5O69SXP_kxyEnNF9PzW_Ygytb7zAUrxuLNA3lSijHA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1382696.RAR5O69SXP_kxyEnNF9PzW_Ygytb7zAUrxuLNA3lSijHA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1382696.RAR5O69SXP_kxyEnNF9PzW_Ygytb7zAUrxuLNA3lSijHA130_assertion
a
np:Assertion
.
dgn-np:NP1382696.RAR5O69SXP_kxyEnNF9PzW_Ygytb7zAUrxuLNA3lSijHA130_provenance
a
np:Provenance
.
dgn-np:NP1382696.RAR5O69SXP_kxyEnNF9PzW_Ygytb7zAUrxuLNA3lSijHA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1382696.RAR5O69SXP_kxyEnNF9PzW_Ygytb7zAUrxuLNA3lSijHA130_assertion
{
miriam-gene:6901
a
ncit:C16612
.
lld:C0574083
a
ncit:C7057
.
dgn-gda:DGNae8d8da01bd8fe596e0747d65982569e
sio:SIO_000628
miriam-gene:6901
,
lld:C0574083
;
a
sio:SIO_001121
.
}
dgn-np:NP1382696.RAR5O69SXP_kxyEnNF9PzW_Ygytb7zAUrxuLNA3lSijHA130_provenance
{
dgn-np:NP1382696.RAR5O69SXP_kxyEnNF9PzW_Ygytb7zAUrxuLNA3lSijHA130_assertion
dcterms:description
"[The characterization of mutations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identification of patients with Barth syndrome who do not manifest all of the cardinal features of this disorder.]. 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:9345098
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1382696.RAR5O69SXP_kxyEnNF9PzW_Ygytb7zAUrxuLNA3lSijHA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:12+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" .
}