@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP530489.RA-lRjTsW2hpwKxPW52f-q72_Zlg0GhNt9lwtJ6bBzw_8
> .
@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:NP530489.RA-lRjTsW2hpwKxPW52f-q72_Zlg0GhNt9lwtJ6bBzw_8130_head
{
this:
np:hasAssertion
dgn-np:NP530489.RA-lRjTsW2hpwKxPW52f-q72_Zlg0GhNt9lwtJ6bBzw_8130_assertion
;
np:hasProvenance
dgn-np:NP530489.RA-lRjTsW2hpwKxPW52f-q72_Zlg0GhNt9lwtJ6bBzw_8130_provenance
;
np:hasPublicationInfo
dgn-np:NP530489.RA-lRjTsW2hpwKxPW52f-q72_Zlg0GhNt9lwtJ6bBzw_8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP530489.RA-lRjTsW2hpwKxPW52f-q72_Zlg0GhNt9lwtJ6bBzw_8130_assertion
a
np:Assertion
.
dgn-np:NP530489.RA-lRjTsW2hpwKxPW52f-q72_Zlg0GhNt9lwtJ6bBzw_8130_provenance
a
np:Provenance
.
dgn-np:NP530489.RA-lRjTsW2hpwKxPW52f-q72_Zlg0GhNt9lwtJ6bBzw_8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP530489.RA-lRjTsW2hpwKxPW52f-q72_Zlg0GhNt9lwtJ6bBzw_8130_assertion
{
miriam-gene:3913
a
ncit:C16612
.
lld:C1836876
a
ncit:C7057
.
dgn-gda:DGN3ac41521062df27f3f94f2b61c281dbd
sio:SIO_000628
miriam-gene:3913
,
lld:C1836876
;
a
sio:SIO_001121
.
}
dgn-np:NP530489.RA-lRjTsW2hpwKxPW52f-q72_Zlg0GhNt9lwtJ6bBzw_8130_provenance
{
dgn-np:NP530489.RA-lRjTsW2hpwKxPW52f-q72_Zlg0GhNt9lwtJ6bBzw_8130_assertion
dcterms:description
"[This observation, together with two recent reports on milder variants of Pierson syndrome, corroborates the concept that the clinical expression of Pierson syndrome is more variable than initially described, and that milder phenotypes may be related to hypomorphic LAMB2 alleles.]. 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:17943323
;
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:NP530489.RA-lRjTsW2hpwKxPW52f-q72_Zlg0GhNt9lwtJ6bBzw_8130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:42:53+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" .
}