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- source_evidence_literature type ECO_0000212 NP732970.RABFz6cydS9gV7Le6BLxbQsx4NAmDwZ8MWkwpmZ156ODY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP732970.RABFz6cydS9gV7Le6BLxbQsx4NAmDwZ8MWkwpmZ156ODY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP732970.RABFz6cydS9gV7Le6BLxbQsx4NAmDwZ8MWkwpmZ156ODY130_provenance.
- NP732970.RABFz6cydS9gV7Le6BLxbQsx4NAmDwZ8MWkwpmZ156ODY130_assertion description "[Mutations in the Norrie Disease gene, Norrie Disease Pseudoglioma (NDP) lead to a phenotypically heterogeneous group of retinopathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP732970.RABFz6cydS9gV7Le6BLxbQsx4NAmDwZ8MWkwpmZ156ODY130_provenance.
- NP732970.RABFz6cydS9gV7Le6BLxbQsx4NAmDwZ8MWkwpmZ156ODY130_assertion evidence source_evidence_literature NP732970.RABFz6cydS9gV7Le6BLxbQsx4NAmDwZ8MWkwpmZ156ODY130_provenance.
- NP732970.RABFz6cydS9gV7Le6BLxbQsx4NAmDwZ8MWkwpmZ156ODY130_assertion SIO_000772 19373682 NP732970.RABFz6cydS9gV7Le6BLxbQsx4NAmDwZ8MWkwpmZ156ODY130_provenance.
- NP732970.RABFz6cydS9gV7Le6BLxbQsx4NAmDwZ8MWkwpmZ156ODY130_assertion wasDerivedFrom befree-2016 NP732970.RABFz6cydS9gV7Le6BLxbQsx4NAmDwZ8MWkwpmZ156ODY130_provenance.
- NP732970.RABFz6cydS9gV7Le6BLxbQsx4NAmDwZ8MWkwpmZ156ODY130_assertion wasGeneratedBy ECO_0000203 NP732970.RABFz6cydS9gV7Le6BLxbQsx4NAmDwZ8MWkwpmZ156ODY130_provenance.
- befree-2016 importedOn "2016-02-19" NP732970.RABFz6cydS9gV7Le6BLxbQsx4NAmDwZ8MWkwpmZ156ODY130_provenance.