Matches in Nanopublications for { ?s ?p "[proband identified with severe myoclonic epilepsy in infancy heterozygous for de novo SCN1A nonsense mutation & CACNB4 missense mutation (R468Q); greater Ca (v) 2.1 currents caused by the mutation may increase neurotransmitter release in excitatory neurons]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- assertion description "[proband identified with severe myoclonic epilepsy in infancy heterozygous for de novo SCN1A nonsense mutation & CACNB4 missense mutation (R468Q); greater Ca (v) 2.1 currents caused by the mutation may increase neurotransmitter release in excitatory neurons]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[proband identified with severe myoclonic epilepsy in infancy heterozygous for de novo SCN1A nonsense mutation & CACNB4 missense mutation (R468Q); greater Ca (v) 2.1 currents caused by the mutation may increase neurotransmitter release in excitatory neurons]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.