Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP690273.RA1bDZL-ESEyP41xuBWnvvlKNhC_LA0vj1oj_iUhtrOVE130_assertion> ?p ?o ?g. }
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- NP690273.RA1bDZL-ESEyP41xuBWnvvlKNhC_LA0vj1oj_iUhtrOVE130_assertion type Assertion NP690273.RA1bDZL-ESEyP41xuBWnvvlKNhC_LA0vj1oj_iUhtrOVE130_head.
- NP690273.RA1bDZL-ESEyP41xuBWnvvlKNhC_LA0vj1oj_iUhtrOVE130_assertion description "[Mutations of SCN1A, encoding the voltage-gated sodium channel alpha1 subunit, represent the most frequent genetic cause of severe myoclonic epilepsy in infancy (SMEI).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP690273.RA1bDZL-ESEyP41xuBWnvvlKNhC_LA0vj1oj_iUhtrOVE130_provenance.
- NP690273.RA1bDZL-ESEyP41xuBWnvvlKNhC_LA0vj1oj_iUhtrOVE130_assertion evidence source_evidence_literature NP690273.RA1bDZL-ESEyP41xuBWnvvlKNhC_LA0vj1oj_iUhtrOVE130_provenance.
- NP690273.RA1bDZL-ESEyP41xuBWnvvlKNhC_LA0vj1oj_iUhtrOVE130_assertion SIO_000772 18755274 NP690273.RA1bDZL-ESEyP41xuBWnvvlKNhC_LA0vj1oj_iUhtrOVE130_provenance.
- NP690273.RA1bDZL-ESEyP41xuBWnvvlKNhC_LA0vj1oj_iUhtrOVE130_assertion wasDerivedFrom befree-2016 NP690273.RA1bDZL-ESEyP41xuBWnvvlKNhC_LA0vj1oj_iUhtrOVE130_provenance.
- NP690273.RA1bDZL-ESEyP41xuBWnvvlKNhC_LA0vj1oj_iUhtrOVE130_assertion wasGeneratedBy ECO_0000203 NP690273.RA1bDZL-ESEyP41xuBWnvvlKNhC_LA0vj1oj_iUhtrOVE130_provenance.