Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP795088.RA9etodaH7SAyZfUjgFAqass3fOrMBKMsC2Ttrr0BkP28130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP795088.RA9etodaH7SAyZfUjgFAqass3fOrMBKMsC2Ttrr0BkP28130_assertion type Assertion NP795088.RA9etodaH7SAyZfUjgFAqass3fOrMBKMsC2Ttrr0BkP28130_head.
- NP795088.RA9etodaH7SAyZfUjgFAqass3fOrMBKMsC2Ttrr0BkP28130_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." NP795088.RA9etodaH7SAyZfUjgFAqass3fOrMBKMsC2Ttrr0BkP28130_provenance.
- NP795088.RA9etodaH7SAyZfUjgFAqass3fOrMBKMsC2Ttrr0BkP28130_assertion evidence source_evidence_literature NP795088.RA9etodaH7SAyZfUjgFAqass3fOrMBKMsC2Ttrr0BkP28130_provenance.
- NP795088.RA9etodaH7SAyZfUjgFAqass3fOrMBKMsC2Ttrr0BkP28130_assertion SIO_000772 20174578 NP795088.RA9etodaH7SAyZfUjgFAqass3fOrMBKMsC2Ttrr0BkP28130_provenance.
- NP795088.RA9etodaH7SAyZfUjgFAqass3fOrMBKMsC2Ttrr0BkP28130_assertion wasDerivedFrom befree-2016 NP795088.RA9etodaH7SAyZfUjgFAqass3fOrMBKMsC2Ttrr0BkP28130_provenance.
- NP795088.RA9etodaH7SAyZfUjgFAqass3fOrMBKMsC2Ttrr0BkP28130_assertion wasGeneratedBy ECO_0000203 NP795088.RA9etodaH7SAyZfUjgFAqass3fOrMBKMsC2Ttrr0BkP28130_provenance.