Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_provenance.
- 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.
- befree-20140225 importedOn "2014-02-25" NP600791.RASFJsvYA8Rl691iwPpkVrIA0-vuU5PqbZQ81UFVAF5Ks130_provenance.