Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP682683.RAH0dLGB_i2CSUgxWw-pvJ1y-sJy4tA0EeCZKPeXhrtJQ130_assertion> ?p ?o ?g. }
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- NP682683.RAH0dLGB_i2CSUgxWw-pvJ1y-sJy4tA0EeCZKPeXhrtJQ130_assertion type Assertion NP682683.RAH0dLGB_i2CSUgxWw-pvJ1y-sJy4tA0EeCZKPeXhrtJQ130_head.
- NP682683.RAH0dLGB_i2CSUgxWw-pvJ1y-sJy4tA0EeCZKPeXhrtJQ130_assertion description "[De novo mutations in SCN1A in sporadic Dravet syndrome and germline mutations in SCN1A, SCN1B, and SCN2A in generalized epilepsies with febrile seizures plus have unraveled the heterogenous myoclonic epilepsies of infancy and early childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP682683.RAH0dLGB_i2CSUgxWw-pvJ1y-sJy4tA0EeCZKPeXhrtJQ130_provenance.
- NP682683.RAH0dLGB_i2CSUgxWw-pvJ1y-sJy4tA0EeCZKPeXhrtJQ130_assertion evidence source_evidence_literature NP682683.RAH0dLGB_i2CSUgxWw-pvJ1y-sJy4tA0EeCZKPeXhrtJQ130_provenance.
- NP682683.RAH0dLGB_i2CSUgxWw-pvJ1y-sJy4tA0EeCZKPeXhrtJQ130_assertion SIO_000772 16302874 NP682683.RAH0dLGB_i2CSUgxWw-pvJ1y-sJy4tA0EeCZKPeXhrtJQ130_provenance.
- NP682683.RAH0dLGB_i2CSUgxWw-pvJ1y-sJy4tA0EeCZKPeXhrtJQ130_assertion wasDerivedFrom befree-20150227 NP682683.RAH0dLGB_i2CSUgxWw-pvJ1y-sJy4tA0EeCZKPeXhrtJQ130_provenance.
- NP682683.RAH0dLGB_i2CSUgxWw-pvJ1y-sJy4tA0EeCZKPeXhrtJQ130_assertion wasGeneratedBy ECO_0000203 NP682683.RAH0dLGB_i2CSUgxWw-pvJ1y-sJy4tA0EeCZKPeXhrtJQ130_provenance.