Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP622869.RAe6y52i9PZC-XS4ZplNtfHqr6S4yTLTOr1LcueclQ9LY130_assertion> ?p ?o ?g. }
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- NP622869.RAe6y52i9PZC-XS4ZplNtfHqr6S4yTLTOr1LcueclQ9LY130_assertion type Assertion NP622869.RAe6y52i9PZC-XS4ZplNtfHqr6S4yTLTOr1LcueclQ9LY130_head.
- NP622869.RAe6y52i9PZC-XS4ZplNtfHqr6S4yTLTOr1LcueclQ9LY130_assertion description "[A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP622869.RAe6y52i9PZC-XS4ZplNtfHqr6S4yTLTOr1LcueclQ9LY130_provenance.
- NP622869.RAe6y52i9PZC-XS4ZplNtfHqr6S4yTLTOr1LcueclQ9LY130_assertion evidence source_evidence_literature NP622869.RAe6y52i9PZC-XS4ZplNtfHqr6S4yTLTOr1LcueclQ9LY130_provenance.
- NP622869.RAe6y52i9PZC-XS4ZplNtfHqr6S4yTLTOr1LcueclQ9LY130_assertion SIO_000772 17668384 NP622869.RAe6y52i9PZC-XS4ZplNtfHqr6S4yTLTOr1LcueclQ9LY130_provenance.
- NP622869.RAe6y52i9PZC-XS4ZplNtfHqr6S4yTLTOr1LcueclQ9LY130_assertion wasDerivedFrom befree-2016 NP622869.RAe6y52i9PZC-XS4ZplNtfHqr6S4yTLTOr1LcueclQ9LY130_provenance.
- NP622869.RAe6y52i9PZC-XS4ZplNtfHqr6S4yTLTOr1LcueclQ9LY130_assertion wasGeneratedBy ECO_0000203 NP622869.RAe6y52i9PZC-XS4ZplNtfHqr6S4yTLTOr1LcueclQ9LY130_provenance.