Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_provenance.
- NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_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." NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_provenance.
- NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_assertion evidence source_evidence_curated NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_provenance.
- NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_assertion SIO_000772 16752392 NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_provenance.
- NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_assertion wasDerivedFrom uniprot-2016 NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_provenance.
- NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_assertion wasGeneratedBy ECO_0000218 NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_provenance.