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- source_evidence_literature type ECO_0000212 NP100932.RAJTViJ5UmMneBelwmvuW8-c5amNVyqbPyf-jUJfs9oyw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP100932.RAJTViJ5UmMneBelwmvuW8-c5amNVyqbPyf-jUJfs9oyw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP100932.RAJTViJ5UmMneBelwmvuW8-c5amNVyqbPyf-jUJfs9oyw130_provenance.
- NP100932.RAJTViJ5UmMneBelwmvuW8-c5amNVyqbPyf-jUJfs9oyw130_assertion description "[Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP100932.RAJTViJ5UmMneBelwmvuW8-c5amNVyqbPyf-jUJfs9oyw130_provenance.
- NP100932.RAJTViJ5UmMneBelwmvuW8-c5amNVyqbPyf-jUJfs9oyw130_assertion evidence source_evidence_literature NP100932.RAJTViJ5UmMneBelwmvuW8-c5amNVyqbPyf-jUJfs9oyw130_provenance.
- NP100932.RAJTViJ5UmMneBelwmvuW8-c5amNVyqbPyf-jUJfs9oyw130_assertion SIO_000772 16752392 NP100932.RAJTViJ5UmMneBelwmvuW8-c5amNVyqbPyf-jUJfs9oyw130_provenance.
- NP100932.RAJTViJ5UmMneBelwmvuW8-c5amNVyqbPyf-jUJfs9oyw130_assertion wasDerivedFrom gad-20150221 NP100932.RAJTViJ5UmMneBelwmvuW8-c5amNVyqbPyf-jUJfs9oyw130_provenance.
- NP100932.RAJTViJ5UmMneBelwmvuW8-c5amNVyqbPyf-jUJfs9oyw130_assertion wasGeneratedBy ECO_0000203 NP100932.RAJTViJ5UmMneBelwmvuW8-c5amNVyqbPyf-jUJfs9oyw130_provenance.
- gad-20150221 importedOn "2015-02-21" NP100932.RAJTViJ5UmMneBelwmvuW8-c5amNVyqbPyf-jUJfs9oyw130_provenance.