Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP238762.RAVeex6WCJeMzcBxRtikAqjp_zaCcNYqEEA1DzESMSnPs130_assertion> ?p ?o ?g. }
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- NP238762.RAVeex6WCJeMzcBxRtikAqjp_zaCcNYqEEA1DzESMSnPs130_assertion type Assertion NP238762.RAVeex6WCJeMzcBxRtikAqjp_zaCcNYqEEA1DzESMSnPs130_head.
- NP238762.RAVeex6WCJeMzcBxRtikAqjp_zaCcNYqEEA1DzESMSnPs130_assertion description "[Loss-of-function variants in the ankyrin-B gene (ANK2) cause 'ankyrin-B syndrome' (previously called type 4 long QT syndrome), manifested by a complex cardiac phenotype including ventricular arrhythmias and sudden cardiac death.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP238762.RAVeex6WCJeMzcBxRtikAqjp_zaCcNYqEEA1DzESMSnPs130_provenance.
- NP238762.RAVeex6WCJeMzcBxRtikAqjp_zaCcNYqEEA1DzESMSnPs130_assertion evidence source_evidence_literature NP238762.RAVeex6WCJeMzcBxRtikAqjp_zaCcNYqEEA1DzESMSnPs130_provenance.
- NP238762.RAVeex6WCJeMzcBxRtikAqjp_zaCcNYqEEA1DzESMSnPs130_assertion SIO_000772 19394342 NP238762.RAVeex6WCJeMzcBxRtikAqjp_zaCcNYqEEA1DzESMSnPs130_provenance.
- NP238762.RAVeex6WCJeMzcBxRtikAqjp_zaCcNYqEEA1DzESMSnPs130_assertion wasDerivedFrom befree-20150227 NP238762.RAVeex6WCJeMzcBxRtikAqjp_zaCcNYqEEA1DzESMSnPs130_provenance.
- NP238762.RAVeex6WCJeMzcBxRtikAqjp_zaCcNYqEEA1DzESMSnPs130_assertion wasGeneratedBy ECO_0000203 NP238762.RAVeex6WCJeMzcBxRtikAqjp_zaCcNYqEEA1DzESMSnPs130_provenance.