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- source_evidence_literature type ECO_0000212 NP805855.RAeMDy2zaDI3612jIKnhPpUB34hvrnUe9OhFRjnqI3AyI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP805855.RAeMDy2zaDI3612jIKnhPpUB34hvrnUe9OhFRjnqI3AyI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP805855.RAeMDy2zaDI3612jIKnhPpUB34hvrnUe9OhFRjnqI3AyI130_provenance.
- 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.
- befree-20140225 importedOn "2014-02-25" NP805855.RAeMDy2zaDI3612jIKnhPpUB34hvrnUe9OhFRjnqI3AyI130_provenance.