Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP29039.RAU5XMwipiyT2WyxkBUUrRXQnZwJpzyf5Uen8zi1NDEUg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP29039.RAU5XMwipiyT2WyxkBUUrRXQnZwJpzyf5Uen8zi1NDEUg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP29039.RAU5XMwipiyT2WyxkBUUrRXQnZwJpzyf5Uen8zi1NDEUg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP29039.RAU5XMwipiyT2WyxkBUUrRXQnZwJpzyf5Uen8zi1NDEUg130_provenance.
- NP29039.RAU5XMwipiyT2WyxkBUUrRXQnZwJpzyf5Uen8zi1NDEUg130_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." NP29039.RAU5XMwipiyT2WyxkBUUrRXQnZwJpzyf5Uen8zi1NDEUg130_provenance.
- NP29039.RAU5XMwipiyT2WyxkBUUrRXQnZwJpzyf5Uen8zi1NDEUg130_assertion evidence source_evidence_curated NP29039.RAU5XMwipiyT2WyxkBUUrRXQnZwJpzyf5Uen8zi1NDEUg130_provenance.
- NP29039.RAU5XMwipiyT2WyxkBUUrRXQnZwJpzyf5Uen8zi1NDEUg130_assertion SIO_000772 20174578 NP29039.RAU5XMwipiyT2WyxkBUUrRXQnZwJpzyf5Uen8zi1NDEUg130_provenance.
- NP29039.RAU5XMwipiyT2WyxkBUUrRXQnZwJpzyf5Uen8zi1NDEUg130_assertion wasDerivedFrom ctd_human-20130708 NP29039.RAU5XMwipiyT2WyxkBUUrRXQnZwJpzyf5Uen8zi1NDEUg130_provenance.
- NP29039.RAU5XMwipiyT2WyxkBUUrRXQnZwJpzyf5Uen8zi1NDEUg130_assertion wasGeneratedBy ECO_0000218 NP29039.RAU5XMwipiyT2WyxkBUUrRXQnZwJpzyf5Uen8zi1NDEUg130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP29039.RAU5XMwipiyT2WyxkBUUrRXQnZwJpzyf5Uen8zi1NDEUg130_provenance.