@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP667390.RAlxjH0zEGcbn5HFwxAe8dFpDlqP--n3J7kEsu-mdt5HM
> .
@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:NP667390.RAlxjH0zEGcbn5HFwxAe8dFpDlqP--n3J7kEsu-mdt5HM130_head
{
this:
np:hasAssertion
dgn-np:NP667390.RAlxjH0zEGcbn5HFwxAe8dFpDlqP--n3J7kEsu-mdt5HM130_assertion
;
np:hasProvenance
dgn-np:NP667390.RAlxjH0zEGcbn5HFwxAe8dFpDlqP--n3J7kEsu-mdt5HM130_provenance
;
np:hasPublicationInfo
dgn-np:NP667390.RAlxjH0zEGcbn5HFwxAe8dFpDlqP--n3J7kEsu-mdt5HM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP667390.RAlxjH0zEGcbn5HFwxAe8dFpDlqP--n3J7kEsu-mdt5HM130_assertion
a
np:Assertion
.
dgn-np:NP667390.RAlxjH0zEGcbn5HFwxAe8dFpDlqP--n3J7kEsu-mdt5HM130_provenance
a
np:Provenance
.
dgn-np:NP667390.RAlxjH0zEGcbn5HFwxAe8dFpDlqP--n3J7kEsu-mdt5HM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP667390.RAlxjH0zEGcbn5HFwxAe8dFpDlqP--n3J7kEsu-mdt5HM130_assertion
{
miriam-gene:90167
a
ncit:C16612
.
lld:C0028738
a
ncit:C7057
.
dgn-gda:DGN4ef139747a681b02829e173e74e0ecd6
sio:SIO_000628
miriam-gene:90167
,
lld:C0028738
;
a
sio:SIO_001121
.
}
dgn-np:NP667390.RAlxjH0zEGcbn5HFwxAe8dFpDlqP--n3J7kEsu-mdt5HM130_provenance
{
dgn-np:NP667390.RAlxjH0zEGcbn5HFwxAe8dFpDlqP--n3J7kEsu-mdt5HM130_assertion
dcterms:description
"[This is first report that five kinds of FRMD7 gene mutation types occurred in Chinese families with IN, which further support that FRMD7 gene mutations are the underlying pathogenesis of the molecular mechanism for infantile nystagmus.]. 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:18431453
;
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:NP667390.RAlxjH0zEGcbn5HFwxAe8dFpDlqP--n3J7kEsu-mdt5HM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:48+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: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" .
}