Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP208481.RA3JL-MClrY8UcRT7f_V4P04MYFY8LC9n3-sn97uCKFtI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP208481.RA3JL-MClrY8UcRT7f_V4P04MYFY8LC9n3-sn97uCKFtI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP208481.RA3JL-MClrY8UcRT7f_V4P04MYFY8LC9n3-sn97uCKFtI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP208481.RA3JL-MClrY8UcRT7f_V4P04MYFY8LC9n3-sn97uCKFtI130_provenance.
- NP208481.RA3JL-MClrY8UcRT7f_V4P04MYFY8LC9n3-sn97uCKFtI130_assertion description "[The G gamma-globin gene from the HPFH chromosome shows the presence of a T----C substitution 175 nucleotides upstream of the CAP site, adding a new example of single-point mutations occurring in the promoter region of the gamma-globin genes and linked to HPFH phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP208481.RA3JL-MClrY8UcRT7f_V4P04MYFY8LC9n3-sn97uCKFtI130_provenance.
- NP208481.RA3JL-MClrY8UcRT7f_V4P04MYFY8LC9n3-sn97uCKFtI130_assertion evidence source_evidence_literature NP208481.RA3JL-MClrY8UcRT7f_V4P04MYFY8LC9n3-sn97uCKFtI130_provenance.
- NP208481.RA3JL-MClrY8UcRT7f_V4P04MYFY8LC9n3-sn97uCKFtI130_assertion SIO_000772 2449927 NP208481.RA3JL-MClrY8UcRT7f_V4P04MYFY8LC9n3-sn97uCKFtI130_provenance.
- NP208481.RA3JL-MClrY8UcRT7f_V4P04MYFY8LC9n3-sn97uCKFtI130_assertion wasDerivedFrom befree-20140225 NP208481.RA3JL-MClrY8UcRT7f_V4P04MYFY8LC9n3-sn97uCKFtI130_provenance.
- NP208481.RA3JL-MClrY8UcRT7f_V4P04MYFY8LC9n3-sn97uCKFtI130_assertion wasGeneratedBy ECO_0000203 NP208481.RA3JL-MClrY8UcRT7f_V4P04MYFY8LC9n3-sn97uCKFtI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP208481.RA3JL-MClrY8UcRT7f_V4P04MYFY8LC9n3-sn97uCKFtI130_provenance.