Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP143709.RA7nlnBQqj42zWHVVW0XKFCktf80fHyrsmD4GaXw5lClI130_assertion> ?p ?o ?g. }
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- NP143709.RA7nlnBQqj42zWHVVW0XKFCktf80fHyrsmD4GaXw5lClI130_assertion type Assertion NP143709.RA7nlnBQqj42zWHVVW0XKFCktf80fHyrsmD4GaXw5lClI130_head.
- NP143709.RA7nlnBQqj42zWHVVW0XKFCktf80fHyrsmD4GaXw5lClI130_assertion description "[missense mutation in the CASQ2 gene is associated with autosomal-recessive CPVT (catecholamine-induced polymorphic ventricular tachycardia).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP143709.RA7nlnBQqj42zWHVVW0XKFCktf80fHyrsmD4GaXw5lClI130_provenance.
- NP143709.RA7nlnBQqj42zWHVVW0XKFCktf80fHyrsmD4GaXw5lClI130_assertion evidence source_evidence_literature NP143709.RA7nlnBQqj42zWHVVW0XKFCktf80fHyrsmD4GaXw5lClI130_provenance.
- NP143709.RA7nlnBQqj42zWHVVW0XKFCktf80fHyrsmD4GaXw5lClI130_assertion SIO_000772 12732448 NP143709.RA7nlnBQqj42zWHVVW0XKFCktf80fHyrsmD4GaXw5lClI130_provenance.
- NP143709.RA7nlnBQqj42zWHVVW0XKFCktf80fHyrsmD4GaXw5lClI130_assertion wasDerivedFrom lhgdn-20090331 NP143709.RA7nlnBQqj42zWHVVW0XKFCktf80fHyrsmD4GaXw5lClI130_provenance.
- NP143709.RA7nlnBQqj42zWHVVW0XKFCktf80fHyrsmD4GaXw5lClI130_assertion wasGeneratedBy ECO_0000203 NP143709.RA7nlnBQqj42zWHVVW0XKFCktf80fHyrsmD4GaXw5lClI130_provenance.