@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:NP181.RAus46p2OYrtlKylw9AGHx4YIRf7KTMWmaq0idZcqCNUk130_head { this: np:hasAssertion dgn-np:NP181.RAus46p2OYrtlKylw9AGHx4YIRf7KTMWmaq0idZcqCNUk130_assertion; np:hasProvenance dgn-np:NP181.RAus46p2OYrtlKylw9AGHx4YIRf7KTMWmaq0idZcqCNUk130_provenance; np:hasPublicationInfo dgn-np:NP181.RAus46p2OYrtlKylw9AGHx4YIRf7KTMWmaq0idZcqCNUk130_publicationInfo; a np:Nanopublication . dgn-np:NP181.RAus46p2OYrtlKylw9AGHx4YIRf7KTMWmaq0idZcqCNUk130_assertion a np:Assertion . dgn-np:NP181.RAus46p2OYrtlKylw9AGHx4YIRf7KTMWmaq0idZcqCNUk130_provenance a np:Provenance . dgn-np:NP181.RAus46p2OYrtlKylw9AGHx4YIRf7KTMWmaq0idZcqCNUk130_publicationInfo a np:PublicationInfo . } dgn-np:NP181.RAus46p2OYrtlKylw9AGHx4YIRf7KTMWmaq0idZcqCNUk130_assertion { miriam-gene:94 a ncit:C16612 . lld:C1838163 a ncit:C7057 . dgn-gda:DGNa7c94d7a1e75d22cf664de52cc6323b8 sio:SIO_000628 miriam-gene:94, lld:C1838163; a sio:SIO_001122 . } dgn-np:NP181.RAus46p2OYrtlKylw9AGHx4YIRf7KTMWmaq0idZcqCNUk130_provenance { dgn-np:NP181.RAus46p2OYrtlKylw9AGHx4YIRf7KTMWmaq0idZcqCNUk130_assertion dcterms:description "[Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online.]. 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:10694922; 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:NP181.RAus46p2OYrtlKylw9AGHx4YIRf7KTMWmaq0idZcqCNUk130_publicationInfo { this: dcterms:created "2014-10-02T12:31:58+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" . }