@prefix orcid: . @prefix dcterms: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP3015.RAn7BKNWThhTzpDpJDNDxn8LfXNvb6Lbz80KpvPzDMMos130_head { this: np:hasAssertion dgn-np:NP3015.RAn7BKNWThhTzpDpJDNDxn8LfXNvb6Lbz80KpvPzDMMos130_assertion; np:hasProvenance dgn-np:NP3015.RAn7BKNWThhTzpDpJDNDxn8LfXNvb6Lbz80KpvPzDMMos130_provenance; np:hasPublicationInfo dgn-np:NP3015.RAn7BKNWThhTzpDpJDNDxn8LfXNvb6Lbz80KpvPzDMMos130_publicationInfo; a np:Nanopublication . dgn-np:NP3015.RAn7BKNWThhTzpDpJDNDxn8LfXNvb6Lbz80KpvPzDMMos130_assertion a np:Assertion . dgn-np:NP3015.RAn7BKNWThhTzpDpJDNDxn8LfXNvb6Lbz80KpvPzDMMos130_provenance a np:Provenance . dgn-np:NP3015.RAn7BKNWThhTzpDpJDNDxn8LfXNvb6Lbz80KpvPzDMMos130_publicationInfo a np:PublicationInfo . } dgn-np:NP3015.RAn7BKNWThhTzpDpJDNDxn8LfXNvb6Lbz80KpvPzDMMos130_assertion { miriam-gene:3081 a ncit:C16612 . lld:C0002066 a ncit:C7057 . dgn-gda:DGN1987c7ce3280ed31535e36b17aa03a8a sio:SIO_000628 miriam-gene:3081, lld:C0002066; a sio:SIO_001122 . } dgn-np:NP3015.RAn7BKNWThhTzpDpJDNDxn8LfXNvb6Lbz80KpvPzDMMos130_provenance { dgn-np:NP3015.RAn7BKNWThhTzpDpJDNDxn8LfXNvb6Lbz80KpvPzDMMos130_assertion dcterms:description "[Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:10205262; prov:wasDerivedFrom dgn-void:uniprot-20130724; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date . } dgn-np:NP3015.RAn7BKNWThhTzpDpJDNDxn8LfXNvb6Lbz80KpvPzDMMos130_publicationInfo { this: dcterms:created "2014-10-02T12:31:59+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; 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 "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }