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- source_evidence_literature type ECO_0000212 NP1381194.RAhEmUtFA43AIi1yl4ysYFAYaFnbD3dD02gxg-8ynzCZE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1381194.RAhEmUtFA43AIi1yl4ysYFAYaFnbD3dD02gxg-8ynzCZE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1381194.RAhEmUtFA43AIi1yl4ysYFAYaFnbD3dD02gxg-8ynzCZE130_provenance.
- NP1381194.RAhEmUtFA43AIi1yl4ysYFAYaFnbD3dD02gxg-8ynzCZE130_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." NP1381194.RAhEmUtFA43AIi1yl4ysYFAYaFnbD3dD02gxg-8ynzCZE130_provenance.
- NP1381194.RAhEmUtFA43AIi1yl4ysYFAYaFnbD3dD02gxg-8ynzCZE130_assertion evidence source_evidence_literature NP1381194.RAhEmUtFA43AIi1yl4ysYFAYaFnbD3dD02gxg-8ynzCZE130_provenance.
- NP1381194.RAhEmUtFA43AIi1yl4ysYFAYaFnbD3dD02gxg-8ynzCZE130_assertion SIO_000772 9313763 NP1381194.RAhEmUtFA43AIi1yl4ysYFAYaFnbD3dD02gxg-8ynzCZE130_provenance.
- NP1381194.RAhEmUtFA43AIi1yl4ysYFAYaFnbD3dD02gxg-8ynzCZE130_assertion wasDerivedFrom befree-2016 NP1381194.RAhEmUtFA43AIi1yl4ysYFAYaFnbD3dD02gxg-8ynzCZE130_provenance.
- NP1381194.RAhEmUtFA43AIi1yl4ysYFAYaFnbD3dD02gxg-8ynzCZE130_assertion wasGeneratedBy ECO_0000203 NP1381194.RAhEmUtFA43AIi1yl4ysYFAYaFnbD3dD02gxg-8ynzCZE130_provenance.
- befree-2016 importedOn "2016-02-19" NP1381194.RAhEmUtFA43AIi1yl4ysYFAYaFnbD3dD02gxg-8ynzCZE130_provenance.