@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1379672.RAHH8aXO4xUiyoNdmCIx9iA0HzpsMW2HBjExgVyd0WuIc
> .
@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:NP1379672.RAHH8aXO4xUiyoNdmCIx9iA0HzpsMW2HBjExgVyd0WuIc130_head
{
this:
np:hasAssertion
dgn-np:NP1379672.RAHH8aXO4xUiyoNdmCIx9iA0HzpsMW2HBjExgVyd0WuIc130_assertion
;
np:hasProvenance
dgn-np:NP1379672.RAHH8aXO4xUiyoNdmCIx9iA0HzpsMW2HBjExgVyd0WuIc130_provenance
;
np:hasPublicationInfo
dgn-np:NP1379672.RAHH8aXO4xUiyoNdmCIx9iA0HzpsMW2HBjExgVyd0WuIc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1379672.RAHH8aXO4xUiyoNdmCIx9iA0HzpsMW2HBjExgVyd0WuIc130_assertion
a
np:Assertion
.
dgn-np:NP1379672.RAHH8aXO4xUiyoNdmCIx9iA0HzpsMW2HBjExgVyd0WuIc130_provenance
a
np:Provenance
.
dgn-np:NP1379672.RAHH8aXO4xUiyoNdmCIx9iA0HzpsMW2HBjExgVyd0WuIc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1379672.RAHH8aXO4xUiyoNdmCIx9iA0HzpsMW2HBjExgVyd0WuIc130_assertion
{
miriam-gene:3897
a
ncit:C16612
.
lld:C0265216
a
ncit:C7057
.
dgn-gda:DGNf4073e830b58210e5d99c6478dc31088
sio:SIO_000628
miriam-gene:3897
,
lld:C0265216
;
a
sio:SIO_001121
.
}
dgn-np:NP1379672.RAHH8aXO4xUiyoNdmCIx9iA0HzpsMW2HBjExgVyd0WuIc130_provenance
{
dgn-np:NP1379672.RAHH8aXO4xUiyoNdmCIx9iA0HzpsMW2HBjExgVyd0WuIc130_assertion
dcterms:description
"[Although the disease phenotypes of this patient may well be independent, the alternative explanation that L1CAM mutations may contribute to both phenotypes cannot be excluded in view of an earlier report on another patient with both X linked hydrocephalus and HSCR.]. 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:9279760
;
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:NP1379672.RAHH8aXO4xUiyoNdmCIx9iA0HzpsMW2HBjExgVyd0WuIc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:11+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" .
}