Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP100932.RAJTViJ5UmMneBelwmvuW8-c5amNVyqbPyf-jUJfs9oyw130_assertion> ?p ?o ?g. }
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- NP100932.RAJTViJ5UmMneBelwmvuW8-c5amNVyqbPyf-jUJfs9oyw130_assertion type Assertion NP100932.RAJTViJ5UmMneBelwmvuW8-c5amNVyqbPyf-jUJfs9oyw130_head.
- 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.
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