@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM
> .
@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:NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_head
{
this:
np:hasAssertion
dgn-np:NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_assertion
;
np:hasProvenance
dgn-np:NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_provenance
;
np:hasPublicationInfo
dgn-np:NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_assertion
a
np:Assertion
.
dgn-np:NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_provenance
a
np:Provenance
.
dgn-np:NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_assertion
{
miriam-gene:55624
a
ncit:C16612
.
lld:C0020255
a
ncit:C7057
.
dgn-gda:DGNc4630b803192cf1cc91a66c366afe7eb
sio:SIO_000628
miriam-gene:55624
,
lld:C0020255
;
a
sio:SIO_001121
.
}
dgn-np:NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_provenance
{
dgn-np:NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_assertion
dcterms:description
"[We also observed a slight correlation between the location of the mutation and clinical severity in the brain: patients with mutations near the 5' terminus of the POMGnT1 coding region show relatively severe brain symptoms such as hydrocephalus, while patients with mutations near the 3' terminus have milder phenotypes.]. 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:12588800
;
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:NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:39+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" .
}