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- source_evidence_literature type ECO_0000212 NP926568.RAAnkjCG5eQu4tXYKCY_mdUpRMqWhzZzwv03yuf4hXVSo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP926568.RAAnkjCG5eQu4tXYKCY_mdUpRMqWhzZzwv03yuf4hXVSo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP926568.RAAnkjCG5eQu4tXYKCY_mdUpRMqWhzZzwv03yuf4hXVSo130_provenance.
- NP926568.RAAnkjCG5eQu4tXYKCY_mdUpRMqWhzZzwv03yuf4hXVSo130_assertion description "[The patients with subtypes CDG-Ia and CDG-Ib have mutations in the genes encoding phosphomannomutase 2 (PMM2) and phosphomannose isomerase (MPI or PMI), respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP926568.RAAnkjCG5eQu4tXYKCY_mdUpRMqWhzZzwv03yuf4hXVSo130_provenance.
- NP926568.RAAnkjCG5eQu4tXYKCY_mdUpRMqWhzZzwv03yuf4hXVSo130_assertion evidence source_evidence_literature NP926568.RAAnkjCG5eQu4tXYKCY_mdUpRMqWhzZzwv03yuf4hXVSo130_provenance.
- NP926568.RAAnkjCG5eQu4tXYKCY_mdUpRMqWhzZzwv03yuf4hXVSo130_assertion SIO_000772 21949237 NP926568.RAAnkjCG5eQu4tXYKCY_mdUpRMqWhzZzwv03yuf4hXVSo130_provenance.
- NP926568.RAAnkjCG5eQu4tXYKCY_mdUpRMqWhzZzwv03yuf4hXVSo130_assertion wasDerivedFrom befree-2016 NP926568.RAAnkjCG5eQu4tXYKCY_mdUpRMqWhzZzwv03yuf4hXVSo130_provenance.
- NP926568.RAAnkjCG5eQu4tXYKCY_mdUpRMqWhzZzwv03yuf4hXVSo130_assertion wasGeneratedBy ECO_0000203 NP926568.RAAnkjCG5eQu4tXYKCY_mdUpRMqWhzZzwv03yuf4hXVSo130_provenance.
- befree-2016 importedOn "2016-02-19" NP926568.RAAnkjCG5eQu4tXYKCY_mdUpRMqWhzZzwv03yuf4hXVSo130_provenance.