@prefix orcid: . @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:NP822417.RAOhS0ZoOiR_OLwEc8aC3FzXrb2FbsrKV1i9yt6h8hQrc130_head { this: np:hasAssertion dgn-np:NP822417.RAOhS0ZoOiR_OLwEc8aC3FzXrb2FbsrKV1i9yt6h8hQrc130_assertion; np:hasProvenance dgn-np:NP822417.RAOhS0ZoOiR_OLwEc8aC3FzXrb2FbsrKV1i9yt6h8hQrc130_provenance; np:hasPublicationInfo dgn-np:NP822417.RAOhS0ZoOiR_OLwEc8aC3FzXrb2FbsrKV1i9yt6h8hQrc130_publicationInfo; a np:Nanopublication . dgn-np:NP822417.RAOhS0ZoOiR_OLwEc8aC3FzXrb2FbsrKV1i9yt6h8hQrc130_assertion a np:Assertion . dgn-np:NP822417.RAOhS0ZoOiR_OLwEc8aC3FzXrb2FbsrKV1i9yt6h8hQrc130_provenance a np:Provenance . dgn-np:NP822417.RAOhS0ZoOiR_OLwEc8aC3FzXrb2FbsrKV1i9yt6h8hQrc130_publicationInfo a np:PublicationInfo . } dgn-np:NP822417.RAOhS0ZoOiR_OLwEc8aC3FzXrb2FbsrKV1i9yt6h8hQrc130_assertion { miriam-gene:9401 a ncit:C16612 . lld:C0019247 a ncit:C7057 . dgn-gda:DGN7a0119deec11196221ced361b6ae9369 sio:SIO_000628 miriam-gene:9401, lld:C0019247; a sio:SIO_001121 . } dgn-np:NP822417.RAOhS0ZoOiR_OLwEc8aC3FzXrb2FbsrKV1i9yt6h8hQrc130_provenance { dgn-np:NP822417.RAOhS0ZoOiR_OLwEc8aC3FzXrb2FbsrKV1i9yt6h8hQrc130_assertion dcterms:description "[Recently, RECQL4 was identified as the gene responsible for some cases of Rothmund-Thomson syndrome (RTS), a rare autosomal recessive genetic disorder that shows chromosomal instability, premature aging, and a high risk of mesenchymal tumors.]. 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:10552928; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP822417.RAOhS0ZoOiR_OLwEc8aC3FzXrb2FbsrKV1i9yt6h8hQrc130_publicationInfo { this: dcterms:created "2015-08-25T14:45:58+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X, orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654; pav:createdBy orcid:0000-0003-0169-8159; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }