Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1799.RAH_SthMzMjLbC2EvS9wX5_aKb17ZYUYb76T8iDf-2wV0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1799.RAH_SthMzMjLbC2EvS9wX5_aKb17ZYUYb76T8iDf-2wV0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1799.RAH_SthMzMjLbC2EvS9wX5_aKb17ZYUYb76T8iDf-2wV0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1799.RAH_SthMzMjLbC2EvS9wX5_aKb17ZYUYb76T8iDf-2wV0130_provenance.
- NP1799.RAH_SthMzMjLbC2EvS9wX5_aKb17ZYUYb76T8iDf-2wV0130_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." NP1799.RAH_SthMzMjLbC2EvS9wX5_aKb17ZYUYb76T8iDf-2wV0130_provenance.
- NP1799.RAH_SthMzMjLbC2EvS9wX5_aKb17ZYUYb76T8iDf-2wV0130_assertion evidence source_evidence_curated NP1799.RAH_SthMzMjLbC2EvS9wX5_aKb17ZYUYb76T8iDf-2wV0130_provenance.
- NP1799.RAH_SthMzMjLbC2EvS9wX5_aKb17ZYUYb76T8iDf-2wV0130_assertion SIO_000772 16752392 NP1799.RAH_SthMzMjLbC2EvS9wX5_aKb17ZYUYb76T8iDf-2wV0130_provenance.
- NP1799.RAH_SthMzMjLbC2EvS9wX5_aKb17ZYUYb76T8iDf-2wV0130_assertion wasDerivedFrom uniprot-20150221 NP1799.RAH_SthMzMjLbC2EvS9wX5_aKb17ZYUYb76T8iDf-2wV0130_provenance.
- NP1799.RAH_SthMzMjLbC2EvS9wX5_aKb17ZYUYb76T8iDf-2wV0130_assertion wasGeneratedBy ECO_0000218 NP1799.RAH_SthMzMjLbC2EvS9wX5_aKb17ZYUYb76T8iDf-2wV0130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1799.RAH_SthMzMjLbC2EvS9wX5_aKb17ZYUYb76T8iDf-2wV0130_provenance.