@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:NP366694.RAqAnAc06le3JVXMHgTXnFA_5RF560Gcqr8v9-W6OOZMQ130_head { this: np:hasAssertion dgn-np:NP366694.RAqAnAc06le3JVXMHgTXnFA_5RF560Gcqr8v9-W6OOZMQ130_assertion; np:hasProvenance dgn-np:NP366694.RAqAnAc06le3JVXMHgTXnFA_5RF560Gcqr8v9-W6OOZMQ130_provenance; np:hasPublicationInfo dgn-np:NP366694.RAqAnAc06le3JVXMHgTXnFA_5RF560Gcqr8v9-W6OOZMQ130_publicationInfo; a np:Nanopublication . dgn-np:NP366694.RAqAnAc06le3JVXMHgTXnFA_5RF560Gcqr8v9-W6OOZMQ130_assertion a np:Assertion . dgn-np:NP366694.RAqAnAc06le3JVXMHgTXnFA_5RF560Gcqr8v9-W6OOZMQ130_provenance a np:Provenance . dgn-np:NP366694.RAqAnAc06le3JVXMHgTXnFA_5RF560Gcqr8v9-W6OOZMQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP366694.RAqAnAc06le3JVXMHgTXnFA_5RF560Gcqr8v9-W6OOZMQ130_assertion { miriam-gene:23531 a ncit:C16612 . lld:C3280314 a ncit:C7057 . dgn-gda:DGNf3cbafe74caaba7cb3d93f6de54a65b6 sio:SIO_000628 miriam-gene:23531, lld:C3280314; a sio:SIO_001121 . } dgn-np:NP366694.RAqAnAc06le3JVXMHgTXnFA_5RF560Gcqr8v9-W6OOZMQ130_provenance { dgn-np:NP366694.RAqAnAc06le3JVXMHgTXnFA_5RF560Gcqr8v9-W6OOZMQ130_assertion dcterms:description "[Combined Malonic and Methylmalonic Aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterised by elevations of urine malonic acid (MA) and methylmalonic acid (MMA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:21785126; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP366694.RAqAnAc06le3JVXMHgTXnFA_5RF560Gcqr8v9-W6OOZMQ130_publicationInfo { this: dcterms:created "2014-10-02T12:35:34+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }