Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP129195.RAcFjudRsnww5zndG3CMEm895MARNc_J3yR0Dkr2AVndw130_assertion> ?p ?o ?g. }
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- NP129195.RAcFjudRsnww5zndG3CMEm895MARNc_J3yR0Dkr2AVndw130_assertion type Assertion NP129195.RAcFjudRsnww5zndG3CMEm895MARNc_J3yR0Dkr2AVndw130_head.
- NP129195.RAcFjudRsnww5zndG3CMEm895MARNc_J3yR0Dkr2AVndw130_assertion description "[A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP129195.RAcFjudRsnww5zndG3CMEm895MARNc_J3yR0Dkr2AVndw130_provenance.
- NP129195.RAcFjudRsnww5zndG3CMEm895MARNc_J3yR0Dkr2AVndw130_assertion evidence source_evidence_literature NP129195.RAcFjudRsnww5zndG3CMEm895MARNc_J3yR0Dkr2AVndw130_provenance.
- NP129195.RAcFjudRsnww5zndG3CMEm895MARNc_J3yR0Dkr2AVndw130_assertion SIO_000772 18755274 NP129195.RAcFjudRsnww5zndG3CMEm895MARNc_J3yR0Dkr2AVndw130_provenance.
- NP129195.RAcFjudRsnww5zndG3CMEm895MARNc_J3yR0Dkr2AVndw130_assertion wasDerivedFrom gad-20150221 NP129195.RAcFjudRsnww5zndG3CMEm895MARNc_J3yR0Dkr2AVndw130_provenance.
- NP129195.RAcFjudRsnww5zndG3CMEm895MARNc_J3yR0Dkr2AVndw130_assertion wasGeneratedBy ECO_0000203 NP129195.RAcFjudRsnww5zndG3CMEm895MARNc_J3yR0Dkr2AVndw130_provenance.