@prefix dc: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP1503.RANEqLnQtnU701AprV6488v5HOJ7Ez6P1C_JPpSsh9DOg130_head { this: np:hasAssertion dgn-np:NP1503.RANEqLnQtnU701AprV6488v5HOJ7Ez6P1C_JPpSsh9DOg130_assertion; np:hasProvenance dgn-np:NP1503.RANEqLnQtnU701AprV6488v5HOJ7Ez6P1C_JPpSsh9DOg130_provenance; np:hasPublicationInfo dgn-np:NP1503.RANEqLnQtnU701AprV6488v5HOJ7Ez6P1C_JPpSsh9DOg130_publicationInfo; a np:Nanopublication . dgn-np:NP1503.RANEqLnQtnU701AprV6488v5HOJ7Ez6P1C_JPpSsh9DOg130_assertion a np:Assertion . dgn-np:NP1503.RANEqLnQtnU701AprV6488v5HOJ7Ez6P1C_JPpSsh9DOg130_provenance a np:Provenance . dgn-np:NP1503.RANEqLnQtnU701AprV6488v5HOJ7Ez6P1C_JPpSsh9DOg130_publicationInfo a np:PublicationInfo . } dgn-np:NP1503.RANEqLnQtnU701AprV6488v5HOJ7Ez6P1C_JPpSsh9DOg130_assertion { miriam-gene:34 a ncit:C16612 . lld:C0220710 a ncit:C7057 . dgn-gda:DGN3d99b982405d8d6d7e7e2ec55cd8e027 sio:SIO_000628 miriam-gene:34, lld:C0220710; a sio:SIO_001122 . } dgn-np:NP1503.RANEqLnQtnU701AprV6488v5HOJ7Ez6P1C_JPpSsh9DOg130_provenance { dgn-np:NP1503.RANEqLnQtnU701AprV6488v5HOJ7Ez6P1C_JPpSsh9DOg130_assertion dc:description "[Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.]. 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:11349232; 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:NP1503.RANEqLnQtnU701AprV6488v5HOJ7Ez6P1C_JPpSsh9DOg130_publicationInfo { this: dc:created "2015-08-25T14:37:42+02:00"^^xsd:dateTime; dc:rights ; dc:rightsHolder dgn-void:IBIGroup; dc: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" . }