@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:NP48704.RARZsvUzQvhEShE4io3jbtlp1SR1KrKDCjDcKZAcdzVTM130_head { this: np:hasAssertion dgn-np:NP48704.RARZsvUzQvhEShE4io3jbtlp1SR1KrKDCjDcKZAcdzVTM130_assertion; np:hasProvenance dgn-np:NP48704.RARZsvUzQvhEShE4io3jbtlp1SR1KrKDCjDcKZAcdzVTM130_provenance; np:hasPublicationInfo dgn-np:NP48704.RARZsvUzQvhEShE4io3jbtlp1SR1KrKDCjDcKZAcdzVTM130_publicationInfo; a np:Nanopublication . dgn-np:NP48704.RARZsvUzQvhEShE4io3jbtlp1SR1KrKDCjDcKZAcdzVTM130_assertion a np:Assertion . dgn-np:NP48704.RARZsvUzQvhEShE4io3jbtlp1SR1KrKDCjDcKZAcdzVTM130_provenance a np:Provenance . dgn-np:NP48704.RARZsvUzQvhEShE4io3jbtlp1SR1KrKDCjDcKZAcdzVTM130_publicationInfo a np:PublicationInfo . } dgn-np:NP48704.RARZsvUzQvhEShE4io3jbtlp1SR1KrKDCjDcKZAcdzVTM130_assertion { miriam-gene:210 a ncit:C16612 . lld:C0153633 a ncit:C7057 . dgn-gda:DGN67990a0fbb345d38fc52dd64bf04b5a3 sio:SIO_000628 miriam-gene:210, lld:C0153633; a sio:SIO_001122 . } dgn-np:NP48704.RARZsvUzQvhEShE4io3jbtlp1SR1KrKDCjDcKZAcdzVTM130_provenance { dgn-np:NP48704.RARZsvUzQvhEShE4io3jbtlp1SR1KrKDCjDcKZAcdzVTM130_assertion dcterms:description "[The allele frequencies of C13298, T13348, T13847, T15096, and C15762 alleles were 21.3%, 2.3%. 82.1%, 62.5%, and 1.1%, respectively. All five mutations were detected by both DHPLC and direct DNA sequencing. No previously reported missense ALAD mutations were found in this Chinese population.]. 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:11459423; prov:wasDerivedFrom dgn-void:gad-20130706; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP48704.RARZsvUzQvhEShE4io3jbtlp1SR1KrKDCjDcKZAcdzVTM130_publicationInfo { this: dcterms:created "2014-10-02T12:32:22+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" . }