Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP805855.RAeMDy2zaDI3612jIKnhPpUB34hvrnUe9OhFRjnqI3AyI130_assertion> ?p ?o ?g. }
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- NP805855.RAeMDy2zaDI3612jIKnhPpUB34hvrnUe9OhFRjnqI3AyI130_assertion type Assertion NP805855.RAeMDy2zaDI3612jIKnhPpUB34hvrnUe9OhFRjnqI3AyI130_head.
- NP805855.RAeMDy2zaDI3612jIKnhPpUB34hvrnUe9OhFRjnqI3AyI130_assertion wasGeneratedBy ECO_0000203 NP805855.RAeMDy2zaDI3612jIKnhPpUB34hvrnUe9OhFRjnqI3AyI130_provenance.
- NP805855.RAeMDy2zaDI3612jIKnhPpUB34hvrnUe9OhFRjnqI3AyI130_assertion wasDerivedFrom befree-20140225 NP805855.RAeMDy2zaDI3612jIKnhPpUB34hvrnUe9OhFRjnqI3AyI130_provenance.
- NP805855.RAeMDy2zaDI3612jIKnhPpUB34hvrnUe9OhFRjnqI3AyI130_assertion SIO_000772 22926142 NP805855.RAeMDy2zaDI3612jIKnhPpUB34hvrnUe9OhFRjnqI3AyI130_provenance.
- NP805855.RAeMDy2zaDI3612jIKnhPpUB34hvrnUe9OhFRjnqI3AyI130_assertion evidence source_evidence_literature NP805855.RAeMDy2zaDI3612jIKnhPpUB34hvrnUe9OhFRjnqI3AyI130_provenance.
- NP805855.RAeMDy2zaDI3612jIKnhPpUB34hvrnUe9OhFRjnqI3AyI130_assertion description "[Heterozygous mutations in Myoclonin1/EFHC1 cause juvenile myoclonic epilepsy (JME), the most common form of genetic generalized epilepsies, while homozygous F229L mutation is associated with primary intractable epilepsy in infancy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP805855.RAeMDy2zaDI3612jIKnhPpUB34hvrnUe9OhFRjnqI3AyI130_provenance.