@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP488658.RAP5fiGlTeA8_L3eMr6j-XiO5Ml2jTeO3TjaSRO_qDcMU
> .
@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:NP488658.RAP5fiGlTeA8_L3eMr6j-XiO5Ml2jTeO3TjaSRO_qDcMU130_head
{
this:
np:hasAssertion
dgn-np:NP488658.RAP5fiGlTeA8_L3eMr6j-XiO5Ml2jTeO3TjaSRO_qDcMU130_assertion
;
np:hasProvenance
dgn-np:NP488658.RAP5fiGlTeA8_L3eMr6j-XiO5Ml2jTeO3TjaSRO_qDcMU130_provenance
;
np:hasPublicationInfo
dgn-np:NP488658.RAP5fiGlTeA8_L3eMr6j-XiO5Ml2jTeO3TjaSRO_qDcMU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP488658.RAP5fiGlTeA8_L3eMr6j-XiO5Ml2jTeO3TjaSRO_qDcMU130_assertion
a
np:Assertion
.
dgn-np:NP488658.RAP5fiGlTeA8_L3eMr6j-XiO5Ml2jTeO3TjaSRO_qDcMU130_provenance
a
np:Provenance
.
dgn-np:NP488658.RAP5fiGlTeA8_L3eMr6j-XiO5Ml2jTeO3TjaSRO_qDcMU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP488658.RAP5fiGlTeA8_L3eMr6j-XiO5Ml2jTeO3TjaSRO_qDcMU130_assertion
{
miriam-gene:10491
a
ncit:C16612
.
lld:C1458156
a
ncit:C7057
.
dgn-gda:DGNf6950ea5ea7ff16014c5682b713dd1bf
sio:SIO_000628
miriam-gene:10491
,
lld:C1458156
;
a
sio:SIO_001121
.
}
dgn-np:NP488658.RAP5fiGlTeA8_L3eMr6j-XiO5Ml2jTeO3TjaSRO_qDcMU130_provenance
{
dgn-np:NP488658.RAP5fiGlTeA8_L3eMr6j-XiO5Ml2jTeO3TjaSRO_qDcMU130_assertion
dcterms:description
"[These results expand the range of CRTAP/LEPRE1 mutations that result in recessive OI and emphasize the importance of distinguishing recurrence of severe OI of recessive inheritance from those that result from parental germline mosaicism for COL1A1 or COL1A2 mutations.]. 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:18566967
;
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:NP488658.RAP5fiGlTeA8_L3eMr6j-XiO5Ml2jTeO3TjaSRO_qDcMU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:52+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" .
}