Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_assertion> ?p ?o ?g. }
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- NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_assertion type Assertion NP4554.RARMzY3OJMEHmo8KvKCFKRPNYnS754bQpco-XjCw9RBu4130_head.
- 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.