@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP635958.RAY18q7c_gB9NSeEfcxyFcWRDCgLNBkTZRVudgla8Ym2E
> .
@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:NP635958.RAY18q7c_gB9NSeEfcxyFcWRDCgLNBkTZRVudgla8Ym2E130_head
{
this:
np:hasAssertion
dgn-np:NP635958.RAY18q7c_gB9NSeEfcxyFcWRDCgLNBkTZRVudgla8Ym2E130_assertion
;
np:hasProvenance
dgn-np:NP635958.RAY18q7c_gB9NSeEfcxyFcWRDCgLNBkTZRVudgla8Ym2E130_provenance
;
np:hasPublicationInfo
dgn-np:NP635958.RAY18q7c_gB9NSeEfcxyFcWRDCgLNBkTZRVudgla8Ym2E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP635958.RAY18q7c_gB9NSeEfcxyFcWRDCgLNBkTZRVudgla8Ym2E130_assertion
a
np:Assertion
.
dgn-np:NP635958.RAY18q7c_gB9NSeEfcxyFcWRDCgLNBkTZRVudgla8Ym2E130_provenance
a
np:Provenance
.
dgn-np:NP635958.RAY18q7c_gB9NSeEfcxyFcWRDCgLNBkTZRVudgla8Ym2E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP635958.RAY18q7c_gB9NSeEfcxyFcWRDCgLNBkTZRVudgla8Ym2E130_assertion
{
miriam-gene:84823
a
ncit:C16612
.
lld:C1836876
a
ncit:C7057
.
dgn-gda:DGN36f341d3a8995a10ec612aec745f81a9
sio:SIO_000628
miriam-gene:84823
,
lld:C1836876
;
a
sio:SIO_001121
.
}
dgn-np:NP635958.RAY18q7c_gB9NSeEfcxyFcWRDCgLNBkTZRVudgla8Ym2E130_provenance
{
dgn-np:NP635958.RAY18q7c_gB9NSeEfcxyFcWRDCgLNBkTZRVudgla8Ym2E130_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-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:NP635958.RAY18q7c_gB9NSeEfcxyFcWRDCgLNBkTZRVudgla8Ym2E130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:33+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" .
}