Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1152437.RATpdJ_KI2i9h86gdsbIkdmLbdKwt6qcWQD06OrX5bf6Q130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1152437.RATpdJ_KI2i9h86gdsbIkdmLbdKwt6qcWQD06OrX5bf6Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1152437.RATpdJ_KI2i9h86gdsbIkdmLbdKwt6qcWQD06OrX5bf6Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1152437.RATpdJ_KI2i9h86gdsbIkdmLbdKwt6qcWQD06OrX5bf6Q130_provenance.
- NP1152437.RATpdJ_KI2i9h86gdsbIkdmLbdKwt6qcWQD06OrX5bf6Q130_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." NP1152437.RATpdJ_KI2i9h86gdsbIkdmLbdKwt6qcWQD06OrX5bf6Q130_provenance.
- NP1152437.RATpdJ_KI2i9h86gdsbIkdmLbdKwt6qcWQD06OrX5bf6Q130_assertion evidence source_evidence_literature NP1152437.RATpdJ_KI2i9h86gdsbIkdmLbdKwt6qcWQD06OrX5bf6Q130_provenance.
- NP1152437.RATpdJ_KI2i9h86gdsbIkdmLbdKwt6qcWQD06OrX5bf6Q130_assertion SIO_000772 2449927 NP1152437.RATpdJ_KI2i9h86gdsbIkdmLbdKwt6qcWQD06OrX5bf6Q130_provenance.
- NP1152437.RATpdJ_KI2i9h86gdsbIkdmLbdKwt6qcWQD06OrX5bf6Q130_assertion wasDerivedFrom befree-2016 NP1152437.RATpdJ_KI2i9h86gdsbIkdmLbdKwt6qcWQD06OrX5bf6Q130_provenance.
- NP1152437.RATpdJ_KI2i9h86gdsbIkdmLbdKwt6qcWQD06OrX5bf6Q130_assertion wasGeneratedBy ECO_0000203 NP1152437.RATpdJ_KI2i9h86gdsbIkdmLbdKwt6qcWQD06OrX5bf6Q130_provenance.
- befree-2016 importedOn "2016-02-19" NP1152437.RATpdJ_KI2i9h86gdsbIkdmLbdKwt6qcWQD06OrX5bf6Q130_provenance.