@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP381932.RADeXhF_H9Wc7VaTCPfmfTddnRBCinKmB49uwhQLsiiNE
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
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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/
> .
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{
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a
np:Nanopublication
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np:Assertion
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ncit:C16612
.
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a
ncit:C7057
.
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,
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dgn-np:NP381932.RADeXhF_H9Wc7VaTCPfmfTddnRBCinKmB49uwhQLsiiNE130_assertion
dcterms:description
"[We have determined the mutations and the pattern of inheritance of the XPD alleles in the 11 cases identified in Italy so far, in which the hair abnormalities diagnostic for TTD are associated with different disease severity but similar cellular photosensitivity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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xsd:date
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dgn-void:source_evidence_literature
a
eco:ECO_0000212
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"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
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dgn-np:NP381932.RADeXhF_H9Wc7VaTCPfmfTddnRBCinKmB49uwhQLsiiNE130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
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<
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