@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP552229.RAxUe5RYk8szMbZUvkBOCpt9uQoU0aS-Jk3EE8I-aJTak
> .
@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/v3.0.0/void/
> .
dgn-np:NP552229.RAxUe5RYk8szMbZUvkBOCpt9uQoU0aS-Jk3EE8I-aJTak130_head
{
this:
np:hasAssertion
dgn-np:NP552229.RAxUe5RYk8szMbZUvkBOCpt9uQoU0aS-Jk3EE8I-aJTak130_assertion
;
np:hasProvenance
dgn-np:NP552229.RAxUe5RYk8szMbZUvkBOCpt9uQoU0aS-Jk3EE8I-aJTak130_provenance
;
np:hasPublicationInfo
dgn-np:NP552229.RAxUe5RYk8szMbZUvkBOCpt9uQoU0aS-Jk3EE8I-aJTak130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP552229.RAxUe5RYk8szMbZUvkBOCpt9uQoU0aS-Jk3EE8I-aJTak130_assertion
a
np:Assertion
.
dgn-np:NP552229.RAxUe5RYk8szMbZUvkBOCpt9uQoU0aS-Jk3EE8I-aJTak130_provenance
a
np:Provenance
.
dgn-np:NP552229.RAxUe5RYk8szMbZUvkBOCpt9uQoU0aS-Jk3EE8I-aJTak130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP552229.RAxUe5RYk8szMbZUvkBOCpt9uQoU0aS-Jk3EE8I-aJTak130_assertion
{
miriam-gene:4204
a
ncit:C16612
.
lld:C2931847
a
ncit:C7057
.
dgn-gda:DGN0166dc34a5fec04f1cc9e41ca97ae198
sio:SIO_000628
miriam-gene:4204
,
lld:C2931847
;
a
sio:SIO_001121
.
}
dgn-np:NP552229.RAxUe5RYk8szMbZUvkBOCpt9uQoU0aS-Jk3EE8I-aJTak130_provenance
{
dgn-np:NP552229.RAxUe5RYk8szMbZUvkBOCpt9uQoU0aS-Jk3EE8I-aJTak130_assertion
dcterms:description
"[While the encephalopathy has been traditionally attributed to the MECP2 gene duplication in patients with Lubs syndrome, here we propose that the enteric phenotype in our patient might be due to the dosage variation of the L1CAM protein, together with additional molecular events not identified yet.]. 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:20860806
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP552229.RAxUe5RYk8szMbZUvkBOCpt9uQoU0aS-Jk3EE8I-aJTak130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:07+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}