@prefix dct: . @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:NP2193.RAH_fTbzcZCS8o8kBjLTqBzxXGOJ9_P2Aa8FYVhj2yN5g130_head { this: np:hasAssertion dgn-np:NP2193.RAH_fTbzcZCS8o8kBjLTqBzxXGOJ9_P2Aa8FYVhj2yN5g130_assertion; np:hasProvenance dgn-np:NP2193.RAH_fTbzcZCS8o8kBjLTqBzxXGOJ9_P2Aa8FYVhj2yN5g130_provenance; np:hasPublicationInfo dgn-np:NP2193.RAH_fTbzcZCS8o8kBjLTqBzxXGOJ9_P2Aa8FYVhj2yN5g130_publicationInfo; a np:Nanopublication . dgn-np:NP2193.RAH_fTbzcZCS8o8kBjLTqBzxXGOJ9_P2Aa8FYVhj2yN5g130_assertion a np:Assertion . dgn-np:NP2193.RAH_fTbzcZCS8o8kBjLTqBzxXGOJ9_P2Aa8FYVhj2yN5g130_provenance a np:Provenance . dgn-np:NP2193.RAH_fTbzcZCS8o8kBjLTqBzxXGOJ9_P2Aa8FYVhj2yN5g130_publicationInfo a np:PublicationInfo . } dgn-np:NP2193.RAH_fTbzcZCS8o8kBjLTqBzxXGOJ9_P2Aa8FYVhj2yN5g130_assertion { miriam-gene:1371 a ncit:C16612 . lld:C0162531 a ncit:C7057 . dgn-gda:DGN96c8afdf6b17d09d509f6708cfdd25c9 sio:SIO_000628 miriam-gene:1371, lld:C0162531; a sio:SIO_001122 . } dgn-np:NP2193.RAH_fTbzcZCS8o8kBjLTqBzxXGOJ9_P2Aa8FYVhj2yN5g130_provenance { dgn-np:NP2193.RAH_fTbzcZCS8o8kBjLTqBzxXGOJ9_P2Aa8FYVhj2yN5g130_assertion dct:description "[Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.]. 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:12181641; prov:wasDerivedFrom dgn-void:uniprot-2016; 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-2016 pav:importedOn "2016-01-25"^^xsd:date . } dgn-np:NP2193.RAH_fTbzcZCS8o8kBjLTqBzxXGOJ9_P2Aa8FYVhj2yN5g130_publicationInfo { this: dct:created "2016-05-13T12:41:51+02:00"^^xsd:dateTime; dct:rights ; dct:rightsHolder dgn-void:IBIGroup; dct:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }