@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:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_head { this: np:hasAssertion dgn-np:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_assertion; np:hasProvenance dgn-np:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_provenance; np:hasPublicationInfo dgn-np:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_publicationInfo; a np:Nanopublication . dgn-np:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_assertion a np:Assertion . dgn-np:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_provenance a np:Provenance . dgn-np:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_publicationInfo a np:PublicationInfo . } dgn-np:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_assertion { miriam-gene:57498 a ncit:C16612 . lld:C0016751 a ncit:C7057 . dgn-gda:DGN5f32a6a27213542bef056dd2900ce9e3 sio:SIO_000628 miriam-gene:57498, lld:C0016751; a sio:SIO_001121 . } dgn-np:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_provenance { dgn-np:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_assertion dcterms:description "[The mutant alleles can be readily detected in the amplification refractory mutation system (ARMS) or (for R59op and 3' intron 6) by digestion of amplified genomic fragments with DdeI or A1wNI, respectively, to facilitate direct diagnosis of HFI by molecular analysis of aldolase B genes.]. 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:8071980; 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:NP222505.RATT2DOiYjlu0goatzJV4EiIGOQK_8VVJdNiwA8uxJQSw130_publicationInfo { this: dcterms:created "2014-10-02T12:34:03+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" . }