Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1330481.RAP1cHsF8w1zXlB1figdAvSOp-14dL-B9D6CJVuvYQQJE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1330481.RAP1cHsF8w1zXlB1figdAvSOp-14dL-B9D6CJVuvYQQJE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1330481.RAP1cHsF8w1zXlB1figdAvSOp-14dL-B9D6CJVuvYQQJE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1330481.RAP1cHsF8w1zXlB1figdAvSOp-14dL-B9D6CJVuvYQQJE130_provenance.
- befree-2016 importedOn "2016-02-19" NP1330481.RAP1cHsF8w1zXlB1figdAvSOp-14dL-B9D6CJVuvYQQJE130_provenance.
- NP1330481.RAP1cHsF8w1zXlB1figdAvSOp-14dL-B9D6CJVuvYQQJE130_assertion wasGeneratedBy ECO_0000203 NP1330481.RAP1cHsF8w1zXlB1figdAvSOp-14dL-B9D6CJVuvYQQJE130_provenance.
- NP1330481.RAP1cHsF8w1zXlB1figdAvSOp-14dL-B9D6CJVuvYQQJE130_assertion wasDerivedFrom befree-2016 NP1330481.RAP1cHsF8w1zXlB1figdAvSOp-14dL-B9D6CJVuvYQQJE130_provenance.
- NP1330481.RAP1cHsF8w1zXlB1figdAvSOp-14dL-B9D6CJVuvYQQJE130_assertion SIO_000772 8037185 NP1330481.RAP1cHsF8w1zXlB1figdAvSOp-14dL-B9D6CJVuvYQQJE130_provenance.
- NP1330481.RAP1cHsF8w1zXlB1figdAvSOp-14dL-B9D6CJVuvYQQJE130_assertion evidence source_evidence_literature NP1330481.RAP1cHsF8w1zXlB1figdAvSOp-14dL-B9D6CJVuvYQQJE130_provenance.
- NP1330481.RAP1cHsF8w1zXlB1figdAvSOp-14dL-B9D6CJVuvYQQJE130_assertion description "[One new beta-thalassemia allele is a frame-shift at codon 124 (-A), while another is characterized by the introduction of an extra proline residue (codon: CCA) between residues Thr (beta 123) and Val (beta 126) to give the sequence -Thr-Pro-Pro-Pro-Val-.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1330481.RAP1cHsF8w1zXlB1figdAvSOp-14dL-B9D6CJVuvYQQJE130_provenance.