@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP496831.RA3SoXVnZCiuV13T-tsaz53VNKDdR-l5-Cy2LNmLhHwvA
> .
@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:NP496831.RA3SoXVnZCiuV13T-tsaz53VNKDdR-l5-Cy2LNmLhHwvA130_head
{
this:
np:hasAssertion
dgn-np:NP496831.RA3SoXVnZCiuV13T-tsaz53VNKDdR-l5-Cy2LNmLhHwvA130_assertion
;
np:hasProvenance
dgn-np:NP496831.RA3SoXVnZCiuV13T-tsaz53VNKDdR-l5-Cy2LNmLhHwvA130_provenance
;
np:hasPublicationInfo
dgn-np:NP496831.RA3SoXVnZCiuV13T-tsaz53VNKDdR-l5-Cy2LNmLhHwvA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP496831.RA3SoXVnZCiuV13T-tsaz53VNKDdR-l5-Cy2LNmLhHwvA130_assertion
a
np:Assertion
.
dgn-np:NP496831.RA3SoXVnZCiuV13T-tsaz53VNKDdR-l5-Cy2LNmLhHwvA130_provenance
a
np:Provenance
.
dgn-np:NP496831.RA3SoXVnZCiuV13T-tsaz53VNKDdR-l5-Cy2LNmLhHwvA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP496831.RA3SoXVnZCiuV13T-tsaz53VNKDdR-l5-Cy2LNmLhHwvA130_assertion
{
miriam-gene:3897
a
ncit:C16612
.
lld:C0036857
a
ncit:C7057
.
dgn-gda:DGN689cf987a3d9893f06b72ebc8d1d51bd
sio:SIO_000628
miriam-gene:3897
,
lld:C0036857
;
a
sio:SIO_001121
.
}
dgn-np:NP496831.RA3SoXVnZCiuV13T-tsaz53VNKDdR-l5-Cy2LNmLhHwvA130_provenance
{
dgn-np:NP496831.RA3SoXVnZCiuV13T-tsaz53VNKDdR-l5-Cy2LNmLhHwvA130_assertion
dcterms:description
"[A novel missense mutation of the L1CAM gene (Xq28) is described in an adult patient affected with severe mental retardation, spastic paraparesis, adducted thumbs, agenesis of corpus callosum and microcephaly (L1 disease).]. 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:16816908
;
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:NP496831.RA3SoXVnZCiuV13T-tsaz53VNKDdR-l5-Cy2LNmLhHwvA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:56+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" .
}