Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP511873.RAaPeVe5cjhCCp2PY1fS0A47tu-42ov-TP7I8tfpIyUmY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP511873.RAaPeVe5cjhCCp2PY1fS0A47tu-42ov-TP7I8tfpIyUmY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP511873.RAaPeVe5cjhCCp2PY1fS0A47tu-42ov-TP7I8tfpIyUmY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP511873.RAaPeVe5cjhCCp2PY1fS0A47tu-42ov-TP7I8tfpIyUmY130_provenance.
- befree-20150227 importedOn "2015-02-27" NP511873.RAaPeVe5cjhCCp2PY1fS0A47tu-42ov-TP7I8tfpIyUmY130_provenance.
- NP511873.RAaPeVe5cjhCCp2PY1fS0A47tu-42ov-TP7I8tfpIyUmY130_assertion wasGeneratedBy ECO_0000203 NP511873.RAaPeVe5cjhCCp2PY1fS0A47tu-42ov-TP7I8tfpIyUmY130_provenance.
- NP511873.RAaPeVe5cjhCCp2PY1fS0A47tu-42ov-TP7I8tfpIyUmY130_assertion wasDerivedFrom befree-20150227 NP511873.RAaPeVe5cjhCCp2PY1fS0A47tu-42ov-TP7I8tfpIyUmY130_provenance.
- NP511873.RAaPeVe5cjhCCp2PY1fS0A47tu-42ov-TP7I8tfpIyUmY130_assertion SIO_000772 9313763 NP511873.RAaPeVe5cjhCCp2PY1fS0A47tu-42ov-TP7I8tfpIyUmY130_provenance.
- NP511873.RAaPeVe5cjhCCp2PY1fS0A47tu-42ov-TP7I8tfpIyUmY130_assertion evidence source_evidence_literature NP511873.RAaPeVe5cjhCCp2PY1fS0A47tu-42ov-TP7I8tfpIyUmY130_provenance.
- NP511873.RAaPeVe5cjhCCp2PY1fS0A47tu-42ov-TP7I8tfpIyUmY130_assertion description "[A frameshift mutation of P291 fsinsC (insertion of a C in a polyC tract around codon 291 for Pro), which would generate a mutant truncated protein of 340 amino acids, was found in a subject who started insulin treatment when hyperglycemia and ketonuria were noticed at 13 years of age.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP511873.RAaPeVe5cjhCCp2PY1fS0A47tu-42ov-TP7I8tfpIyUmY130_provenance.