@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw
> .
@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:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_head
{
this:
np:hasAssertion
dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_assertion
;
np:hasProvenance
dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_provenance
;
np:hasPublicationInfo
dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_assertion
a
np:Assertion
.
dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_provenance
a
np:Provenance
.
dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_assertion
{
miriam-gene:4952
a
ncit:C16612
.
lld:C0028860
a
ncit:C7057
.
dgn-gda:DGN01b25b357ded7d86c5c33c048584a00d
sio:SIO_000628
miriam-gene:4952
,
lld:C0028860
;
a
sio:SIO_001121
.
}
dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_provenance
{
dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_assertion
dcterms:description
"[Our findings confirm that OCRL1 is involved in the functional defects characteristic of Dent's disease and suggest that patients carrying missense mutations in exons where many Lowe mutations are mapped may represent a phenotypic variant of Lowe syndrome.]. 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:19582483
;
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:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:25+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" .
}