@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:NP4377.RAQkMaoEImTK2pFhMzrmtvFXRebIan2KUu7QXpJvSTzJ0130_head { this: np:hasAssertion dgn-np:NP4377.RAQkMaoEImTK2pFhMzrmtvFXRebIan2KUu7QXpJvSTzJ0130_assertion; np:hasProvenance dgn-np:NP4377.RAQkMaoEImTK2pFhMzrmtvFXRebIan2KUu7QXpJvSTzJ0130_provenance; np:hasPublicationInfo dgn-np:NP4377.RAQkMaoEImTK2pFhMzrmtvFXRebIan2KUu7QXpJvSTzJ0130_publicationInfo; a np:Nanopublication . dgn-np:NP4377.RAQkMaoEImTK2pFhMzrmtvFXRebIan2KUu7QXpJvSTzJ0130_assertion a np:Assertion . dgn-np:NP4377.RAQkMaoEImTK2pFhMzrmtvFXRebIan2KUu7QXpJvSTzJ0130_provenance a np:Provenance . dgn-np:NP4377.RAQkMaoEImTK2pFhMzrmtvFXRebIan2KUu7QXpJvSTzJ0130_publicationInfo a np:PublicationInfo . } dgn-np:NP4377.RAQkMaoEImTK2pFhMzrmtvFXRebIan2KUu7QXpJvSTzJ0130_assertion { miriam-gene:80208 a ncit:C16612 . lld:C1858479 a ncit:C7057 . dgn-gda:DGNdf9103c9f2fb542f963051674e2fc2e4 sio:SIO_000628 miriam-gene:80208, lld:C1858479; a sio:SIO_001122 . } dgn-np:NP4377.RAQkMaoEImTK2pFhMzrmtvFXRebIan2KUu7QXpJvSTzJ0130_provenance { dgn-np:NP4377.RAQkMaoEImTK2pFhMzrmtvFXRebIan2KUu7QXpJvSTzJ0130_assertion dcterms:description "[We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation.]. 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:19105190; prov:wasDerivedFrom dgn-void:uniprot-20150221; 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-20150221 pav:importedOn "2015-02-21"^^xsd:date . } dgn-np:NP4377.RAQkMaoEImTK2pFhMzrmtvFXRebIan2KUu7QXpJvSTzJ0130_publicationInfo { this: dcterms:created "2015-08-25T14:37:44+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }