Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP780303.RAY88vBdKmSUScrtCXpMdMhTwVIXzRyrY2CI0je0QIF8w130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP780303.RAY88vBdKmSUScrtCXpMdMhTwVIXzRyrY2CI0je0QIF8w130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP780303.RAY88vBdKmSUScrtCXpMdMhTwVIXzRyrY2CI0je0QIF8w130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP780303.RAY88vBdKmSUScrtCXpMdMhTwVIXzRyrY2CI0je0QIF8w130_provenance.
- NP780303.RAY88vBdKmSUScrtCXpMdMhTwVIXzRyrY2CI0je0QIF8w130_assertion description "[In order to clarify the reasons for the reduced Hb A2 levels in Sardinian delta beta-thalassemia, we characterized, both by cloning and sequence analysis and by direct sequencing of amplified DNA, the delta-globin gene from an individual of Sardinian descent who is a compound heterozygote for the beta zero-thalassemia codon 39 (C-->T) nonsense mutation and the Sardinian delta beta-thalassemia [codon 39(C-->T)/-196(C-->T)A gamma].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP780303.RAY88vBdKmSUScrtCXpMdMhTwVIXzRyrY2CI0je0QIF8w130_provenance.
- NP780303.RAY88vBdKmSUScrtCXpMdMhTwVIXzRyrY2CI0je0QIF8w130_assertion evidence source_evidence_literature NP780303.RAY88vBdKmSUScrtCXpMdMhTwVIXzRyrY2CI0je0QIF8w130_provenance.
- NP780303.RAY88vBdKmSUScrtCXpMdMhTwVIXzRyrY2CI0je0QIF8w130_assertion SIO_000772 1487421 NP780303.RAY88vBdKmSUScrtCXpMdMhTwVIXzRyrY2CI0je0QIF8w130_provenance.
- NP780303.RAY88vBdKmSUScrtCXpMdMhTwVIXzRyrY2CI0je0QIF8w130_assertion wasDerivedFrom befree-20140225 NP780303.RAY88vBdKmSUScrtCXpMdMhTwVIXzRyrY2CI0je0QIF8w130_provenance.
- NP780303.RAY88vBdKmSUScrtCXpMdMhTwVIXzRyrY2CI0je0QIF8w130_assertion wasGeneratedBy ECO_0000203 NP780303.RAY88vBdKmSUScrtCXpMdMhTwVIXzRyrY2CI0je0QIF8w130_provenance.
- befree-20140225 importedOn "2014-02-25" NP780303.RAY88vBdKmSUScrtCXpMdMhTwVIXzRyrY2CI0je0QIF8w130_provenance.