Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP925983.RAVlm0jL4FBdA8mq3UeVgWF4zNQU5k2EvlgXnuKNsBZlk#assertion> ?p ?o ?g. }
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- assertion description "[Loss-of-function mutations in SCN5A, the gene encoding Na(v)1.5 Na+ channel, are associated with inherited cardiac conduction defects and Brugada syndrome, which both exhibit variable phenotypic penetrance of conduction defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 20174578 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.