@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP931441.RA9qG8C2MyE2Sjb0h1M8e_7H86JfVY7SmmaRgSi8IQyC8
> .
@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:NP931441.RA9qG8C2MyE2Sjb0h1M8e_7H86JfVY7SmmaRgSi8IQyC8130_head
{
this:
np:hasAssertion
dgn-np:NP931441.RA9qG8C2MyE2Sjb0h1M8e_7H86JfVY7SmmaRgSi8IQyC8130_assertion
;
np:hasProvenance
dgn-np:NP931441.RA9qG8C2MyE2Sjb0h1M8e_7H86JfVY7SmmaRgSi8IQyC8130_provenance
;
np:hasPublicationInfo
dgn-np:NP931441.RA9qG8C2MyE2Sjb0h1M8e_7H86JfVY7SmmaRgSi8IQyC8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP931441.RA9qG8C2MyE2Sjb0h1M8e_7H86JfVY7SmmaRgSi8IQyC8130_assertion
a
np:Assertion
.
dgn-np:NP931441.RA9qG8C2MyE2Sjb0h1M8e_7H86JfVY7SmmaRgSi8IQyC8130_provenance
a
np:Provenance
.
dgn-np:NP931441.RA9qG8C2MyE2Sjb0h1M8e_7H86JfVY7SmmaRgSi8IQyC8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP931441.RA9qG8C2MyE2Sjb0h1M8e_7H86JfVY7SmmaRgSi8IQyC8130_assertion
{
miriam-gene:2335
a
ncit:C16612
.
lld:C0265216
a
ncit:C7057
.
dgn-gda:DGN55288cac46f9f9d83c9708fcf93c0dbc
sio:SIO_000628
miriam-gene:2335
,
lld:C0265216
;
a
sio:SIO_001121
.
}
dgn-np:NP931441.RA9qG8C2MyE2Sjb0h1M8e_7H86JfVY7SmmaRgSi8IQyC8130_provenance
{
dgn-np:NP931441.RA9qG8C2MyE2Sjb0h1M8e_7H86JfVY7SmmaRgSi8IQyC8130_assertion
dcterms:description
"[Interestingly, a missense mutation in an XHC family predicting the Val768Ile change in the second fibronectin type III domain of L1CAM was found not only in the two affected cousins and their obligate carrier mothers but also in two unaffected male relatives of the patients.]. 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:9268105
;
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:NP931441.RA9qG8C2MyE2Sjb0h1M8e_7H86JfVY7SmmaRgSi8IQyC8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:31+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" .
}