Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP740706.RAvdb2piHq-tdR6imCm01pmF7yRip3jnlLaqg1NfjWwfA130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP740706.RAvdb2piHq-tdR6imCm01pmF7yRip3jnlLaqg1NfjWwfA130_assertion type Assertion NP740706.RAvdb2piHq-tdR6imCm01pmF7yRip3jnlLaqg1NfjWwfA130_head.
- NP740706.RAvdb2piHq-tdR6imCm01pmF7yRip3jnlLaqg1NfjWwfA130_assertion description "[Mutations in the SCN1A gene are found in up to 80% of individuals with severe myoclonic epilepsy of infancy (SMEI), and mutations in KCNQ2 and KCNQ3 were identified in benign familial neonatal convulsions (BFNC) as well as in single families with Rolandic epilepsy (RE) and idiopathic generalized epilepsies (IGE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP740706.RAvdb2piHq-tdR6imCm01pmF7yRip3jnlLaqg1NfjWwfA130_provenance.
- NP740706.RAvdb2piHq-tdR6imCm01pmF7yRip3jnlLaqg1NfjWwfA130_assertion evidence source_evidence_literature NP740706.RAvdb2piHq-tdR6imCm01pmF7yRip3jnlLaqg1NfjWwfA130_provenance.
- NP740706.RAvdb2piHq-tdR6imCm01pmF7yRip3jnlLaqg1NfjWwfA130_assertion SIO_000772 19464834 NP740706.RAvdb2piHq-tdR6imCm01pmF7yRip3jnlLaqg1NfjWwfA130_provenance.
- NP740706.RAvdb2piHq-tdR6imCm01pmF7yRip3jnlLaqg1NfjWwfA130_assertion wasDerivedFrom befree-2016 NP740706.RAvdb2piHq-tdR6imCm01pmF7yRip3jnlLaqg1NfjWwfA130_provenance.
- NP740706.RAvdb2piHq-tdR6imCm01pmF7yRip3jnlLaqg1NfjWwfA130_assertion wasGeneratedBy ECO_0000203 NP740706.RAvdb2piHq-tdR6imCm01pmF7yRip3jnlLaqg1NfjWwfA130_provenance.