Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_assertion> ?p ?o ?g. }
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- NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_assertion type Assertion NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_head.
- NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_assertion description "[Mutations in the CACNA1A gene that encodes the pore-forming alpha1 subunit of human voltage-gated CaV2.1 (P/Q-type) Ca2+ channels cause several autosomal-dominant neurologic disorders, including familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_provenance.
- NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_assertion evidence source_evidence_literature NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_provenance.
- NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_assertion SIO_000772 20204399 NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_provenance.
- NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_assertion wasDerivedFrom befree-20140225 NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_provenance.
- NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_assertion wasGeneratedBy ECO_0000203 NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_provenance.