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- source_evidence_literature type ECO_0000212 NP591664.RABNvULp6iNjwabU1el64cakBNlHPfsDdCF_rRKAiRiM0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP591664.RABNvULp6iNjwabU1el64cakBNlHPfsDdCF_rRKAiRiM0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP591664.RABNvULp6iNjwabU1el64cakBNlHPfsDdCF_rRKAiRiM0130_provenance.
- NP591664.RABNvULp6iNjwabU1el64cakBNlHPfsDdCF_rRKAiRiM0130_assertion description "[Affected individuals have mutations in the NHS (Nance-Horan syndrome) gene typically resulting in premature truncation of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP591664.RABNvULp6iNjwabU1el64cakBNlHPfsDdCF_rRKAiRiM0130_provenance.
- NP591664.RABNvULp6iNjwabU1el64cakBNlHPfsDdCF_rRKAiRiM0130_assertion evidence source_evidence_literature NP591664.RABNvULp6iNjwabU1el64cakBNlHPfsDdCF_rRKAiRiM0130_provenance.
- NP591664.RABNvULp6iNjwabU1el64cakBNlHPfsDdCF_rRKAiRiM0130_assertion SIO_000772 16675532 NP591664.RABNvULp6iNjwabU1el64cakBNlHPfsDdCF_rRKAiRiM0130_provenance.
- NP591664.RABNvULp6iNjwabU1el64cakBNlHPfsDdCF_rRKAiRiM0130_assertion wasDerivedFrom befree-20150227 NP591664.RABNvULp6iNjwabU1el64cakBNlHPfsDdCF_rRKAiRiM0130_provenance.
- NP591664.RABNvULp6iNjwabU1el64cakBNlHPfsDdCF_rRKAiRiM0130_assertion wasGeneratedBy ECO_0000203 NP591664.RABNvULp6iNjwabU1el64cakBNlHPfsDdCF_rRKAiRiM0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP591664.RABNvULp6iNjwabU1el64cakBNlHPfsDdCF_rRKAiRiM0130_provenance.