Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP616686.RADeOYrYmgrOR6dFZCBlJ-GQSHKVy9VWXuB4eg7rLsDGI130_assertion> ?p ?o ?g. }
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- NP616686.RADeOYrYmgrOR6dFZCBlJ-GQSHKVy9VWXuB4eg7rLsDGI130_assertion type Assertion NP616686.RADeOYrYmgrOR6dFZCBlJ-GQSHKVy9VWXuB4eg7rLsDGI130_head.
- NP616686.RADeOYrYmgrOR6dFZCBlJ-GQSHKVy9VWXuB4eg7rLsDGI130_assertion wasGeneratedBy ECO_0000203 NP616686.RADeOYrYmgrOR6dFZCBlJ-GQSHKVy9VWXuB4eg7rLsDGI130_provenance.
- NP616686.RADeOYrYmgrOR6dFZCBlJ-GQSHKVy9VWXuB4eg7rLsDGI130_assertion wasDerivedFrom befree-2016 NP616686.RADeOYrYmgrOR6dFZCBlJ-GQSHKVy9VWXuB4eg7rLsDGI130_provenance.
- NP616686.RADeOYrYmgrOR6dFZCBlJ-GQSHKVy9VWXuB4eg7rLsDGI130_assertion SIO_000772 17589814 NP616686.RADeOYrYmgrOR6dFZCBlJ-GQSHKVy9VWXuB4eg7rLsDGI130_provenance.
- NP616686.RADeOYrYmgrOR6dFZCBlJ-GQSHKVy9VWXuB4eg7rLsDGI130_assertion evidence source_evidence_literature NP616686.RADeOYrYmgrOR6dFZCBlJ-GQSHKVy9VWXuB4eg7rLsDGI130_provenance.
- NP616686.RADeOYrYmgrOR6dFZCBlJ-GQSHKVy9VWXuB4eg7rLsDGI130_assertion description "[Mutations in neuronal nAChRs are found in a rare form of familial nocturnal frontal lobe epilepsy (ADNFLE), while mutations in the neuromuscular subtype of the nAChR are responsible for either congenital myasthenia syndromes (adult subtype of neuromuscular nAChR) or a form of arthrogryposis multiplex congenita type Escobar (fetal subtype of neuromuscular nAChR).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP616686.RADeOYrYmgrOR6dFZCBlJ-GQSHKVy9VWXuB4eg7rLsDGI130_provenance.