@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:NP458906.RAAjvCchCQfxrbXoUQsdzeLwc_zZqPg79wsb0xyeCAo10130_head { this: np:hasAssertion dgn-np:NP458906.RAAjvCchCQfxrbXoUQsdzeLwc_zZqPg79wsb0xyeCAo10130_assertion; np:hasProvenance dgn-np:NP458906.RAAjvCchCQfxrbXoUQsdzeLwc_zZqPg79wsb0xyeCAo10130_provenance; np:hasPublicationInfo dgn-np:NP458906.RAAjvCchCQfxrbXoUQsdzeLwc_zZqPg79wsb0xyeCAo10130_publicationInfo; a np:Nanopublication . dgn-np:NP458906.RAAjvCchCQfxrbXoUQsdzeLwc_zZqPg79wsb0xyeCAo10130_assertion a np:Assertion . dgn-np:NP458906.RAAjvCchCQfxrbXoUQsdzeLwc_zZqPg79wsb0xyeCAo10130_provenance a np:Provenance . dgn-np:NP458906.RAAjvCchCQfxrbXoUQsdzeLwc_zZqPg79wsb0xyeCAo10130_publicationInfo a np:PublicationInfo . } dgn-np:NP458906.RAAjvCchCQfxrbXoUQsdzeLwc_zZqPg79wsb0xyeCAo10130_assertion { miriam-gene:2548 a ncit:C16612 . lld:C0162872 a ncit:C7057 . dgn-gda:DGN6877ec62da0172673d5417aded99e2f2 sio:SIO_000628 miriam-gene:2548, lld:C0162872; a sio:SIO_001121 . } dgn-np:NP458906.RAAjvCchCQfxrbXoUQsdzeLwc_zZqPg79wsb0xyeCAo10130_provenance { dgn-np:NP458906.RAAjvCchCQfxrbXoUQsdzeLwc_zZqPg79wsb0xyeCAo10130_assertion dcterms:description "[We describe the implementation of reverse dot blot (RDB) hybridization as a rapid nonradioactive method for the identification of six frequent globin gene point mutations in the Mediterranean population: alpha(Hph)alpha: alpha2 IVS I donor site GGTGAGG --> GG-----; alpha(NcoI)alpha: alpha2 initiation codon ATG --> ACG; alpha(TSaudi)alpha: alpha2Poly A signal AATAA --> AATAAG; alpha(Icaria)alpha: alpha2 termination codon TAA --> AAA (Ter --> LYS); alpha(CS)alpha: alpha2 termination codon TAA --> CAA (Ter --> gly); alphaalpha(NcoI): alpha1 initiation codon ATG --> GTG; and three alpha2 globin gene point mutations found in immigrants in Italy: alpha(T-Quongsze)alpha: alpha2 codon 12 CTG --> CCG (Leu --> Pro); alpha(Seal Rock)alpha: alpha2 termination codon TAA --> GAA (TER --> GLU); and alpha(Koyadora)alpha: alpha2 termination codon TAA --> TCA (TER --> SER).]. 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:14587048; 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:NP458906.RAAjvCchCQfxrbXoUQsdzeLwc_zZqPg79wsb0xyeCAo10130_publicationInfo { this: dcterms:created "2014-10-02T12:36:33+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" . }