@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP271118.RAGPpD3iitkYLMJzHI-HhdVvUSfJQR24M7XlbxzXPADAk130_head { this: np:hasAssertion dgn-np:NP271118.RAGPpD3iitkYLMJzHI-HhdVvUSfJQR24M7XlbxzXPADAk130_assertion; np:hasProvenance dgn-np:NP271118.RAGPpD3iitkYLMJzHI-HhdVvUSfJQR24M7XlbxzXPADAk130_provenance; np:hasPublicationInfo dgn-np:NP271118.RAGPpD3iitkYLMJzHI-HhdVvUSfJQR24M7XlbxzXPADAk130_publicationInfo; a np:Nanopublication . dgn-np:NP271118.RAGPpD3iitkYLMJzHI-HhdVvUSfJQR24M7XlbxzXPADAk130_assertion a np:Assertion . dgn-np:NP271118.RAGPpD3iitkYLMJzHI-HhdVvUSfJQR24M7XlbxzXPADAk130_provenance a np:Provenance . dgn-np:NP271118.RAGPpD3iitkYLMJzHI-HhdVvUSfJQR24M7XlbxzXPADAk130_publicationInfo a np:PublicationInfo . } dgn-np:NP271118.RAGPpD3iitkYLMJzHI-HhdVvUSfJQR24M7XlbxzXPADAk130_assertion { miriam-gene:404672 a ncit:C16612 . lld:C0037268 a ncit:C7057 . dgn-gda:DGN513ab573616ff40a88149941337bbe19 sio:SIO_000628 miriam-gene:404672, lld:C0037268; a sio:SIO_001121 . } dgn-np:NP271118.RAGPpD3iitkYLMJzHI-HhdVvUSfJQR24M7XlbxzXPADAk130_provenance { dgn-np:NP271118.RAGPpD3iitkYLMJzHI-HhdVvUSfJQR24M7XlbxzXPADAk130_assertion dcterms:description "[Because the clinical phenotypes of these patients do not obviously differ from those of TTDs with mutations at other sites, we conclude that the lack of skin abnormalities in TTD is independent of the defective cellular responses to UV.]. 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:10667598; 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:NP271118.RAGPpD3iitkYLMJzHI-HhdVvUSfJQR24M7XlbxzXPADAk130_publicationInfo { this: dcterms:created "2014-10-02T12:34:31+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }