@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:NP1089.RABDpp5OtNoGiD1m6nA2uvFMCQgDUd-9FqFr8L6pY5QJY130_head { this: np:hasAssertion dgn-np:NP1089.RABDpp5OtNoGiD1m6nA2uvFMCQgDUd-9FqFr8L6pY5QJY130_assertion; np:hasProvenance dgn-np:NP1089.RABDpp5OtNoGiD1m6nA2uvFMCQgDUd-9FqFr8L6pY5QJY130_provenance; np:hasPublicationInfo dgn-np:NP1089.RABDpp5OtNoGiD1m6nA2uvFMCQgDUd-9FqFr8L6pY5QJY130_publicationInfo; a np:Nanopublication . dgn-np:NP1089.RABDpp5OtNoGiD1m6nA2uvFMCQgDUd-9FqFr8L6pY5QJY130_assertion a np:Assertion . dgn-np:NP1089.RABDpp5OtNoGiD1m6nA2uvFMCQgDUd-9FqFr8L6pY5QJY130_provenance a np:Provenance . dgn-np:NP1089.RABDpp5OtNoGiD1m6nA2uvFMCQgDUd-9FqFr8L6pY5QJY130_publicationInfo a np:PublicationInfo . } dgn-np:NP1089.RABDpp5OtNoGiD1m6nA2uvFMCQgDUd-9FqFr8L6pY5QJY130_assertion { miriam-gene:5096 a ncit:C16612 . lld:C0268579 a ncit:C7057 . dgn-gda:DGN822780f057105955b84d70ee0967baf8 sio:SIO_000628 miriam-gene:5096, lld:C0268579; a sio:SIO_001122 . } dgn-np:NP1089.RABDpp5OtNoGiD1m6nA2uvFMCQgDUd-9FqFr8L6pY5QJY130_provenance { dgn-np:NP1089.RABDpp5OtNoGiD1m6nA2uvFMCQgDUd-9FqFr8L6pY5QJY130_assertion dcterms:description "[To clarify the molecular effect associated with gene alterations causing propionic acidemia, 12 different mutations affecting the PCCB gene (R67S, S106R, G131R, R165W, R165Q, E168K, G198D, A497V, R512C, L519P, W531X, and N536D) were analyzed for their involvement in alpha-beta heteromeric and beta-beta homomeric assembly.]. 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:11749052; 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:NP1089.RABDpp5OtNoGiD1m6nA2uvFMCQgDUd-9FqFr8L6pY5QJY130_publicationInfo { this: dcterms:created "2015-08-25T14:37:42+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" . }