@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP2589.RAnWbCUhi_u8mtbjh6VuPkmsWfm4DZjXHctzg9w5soV0c
> .
@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 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:NP2589.RAnWbCUhi_u8mtbjh6VuPkmsWfm4DZjXHctzg9w5soV0c130_head
{
this:
np:hasAssertion
dgn-np:NP2589.RAnWbCUhi_u8mtbjh6VuPkmsWfm4DZjXHctzg9w5soV0c130_assertion
;
np:hasProvenance
dgn-np:NP2589.RAnWbCUhi_u8mtbjh6VuPkmsWfm4DZjXHctzg9w5soV0c130_provenance
;
np:hasPublicationInfo
dgn-np:NP2589.RAnWbCUhi_u8mtbjh6VuPkmsWfm4DZjXHctzg9w5soV0c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP2589.RAnWbCUhi_u8mtbjh6VuPkmsWfm4DZjXHctzg9w5soV0c130_assertion
a
np:Assertion
.
dgn-np:NP2589.RAnWbCUhi_u8mtbjh6VuPkmsWfm4DZjXHctzg9w5soV0c130_provenance
a
np:Provenance
.
dgn-np:NP2589.RAnWbCUhi_u8mtbjh6VuPkmsWfm4DZjXHctzg9w5soV0c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP2589.RAnWbCUhi_u8mtbjh6VuPkmsWfm4DZjXHctzg9w5soV0c130_assertion
{
miriam-gene:5048
a
ncit:C16612
.
lld:C0431375
a
ncit:C7057
.
dgn-gda:DGNe0936ff921682b00f2194869a001b743
sio:SIO_000628
miriam-gene:5048
,
lld:C0431375
;
a
sio:SIO_001122
.
}
dgn-np:NP2589.RAnWbCUhi_u8mtbjh6VuPkmsWfm4DZjXHctzg9w5soV0c130_provenance
{
dgn-np:NP2589.RAnWbCUhi_u8mtbjh6VuPkmsWfm4DZjXHctzg9w5soV0c130_assertion
dcterms:description
"[The authors suggest that the few patients found thus far with missense mutations of LIS1 results from an underascertainment of patients with more subtle malformations and that abnormalities of the LIS1 gene may account for a greater spectrum of neurologic problems in childhood than has previously been appreciated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:11502906
;
prov:wasDerivedFrom
dgn-void:uniprot-20150221
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
}
dgn-np:NP2589.RAnWbCUhi_u8mtbjh6VuPkmsWfm4DZjXHctzg9w5soV0c130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:37:43+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
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}