Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP764212.RAGxPERbIwyDLzW7x_Naqc6fkBHYpi4_-xv2qXrE-PGnw130_assertion> ?p ?o ?g. }
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- NP764212.RAGxPERbIwyDLzW7x_Naqc6fkBHYpi4_-xv2qXrE-PGnw130_assertion type Assertion NP764212.RAGxPERbIwyDLzW7x_Naqc6fkBHYpi4_-xv2qXrE-PGnw130_head.
- NP764212.RAGxPERbIwyDLzW7x_Naqc6fkBHYpi4_-xv2qXrE-PGnw130_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." NP764212.RAGxPERbIwyDLzW7x_Naqc6fkBHYpi4_-xv2qXrE-PGnw130_provenance.
- NP764212.RAGxPERbIwyDLzW7x_Naqc6fkBHYpi4_-xv2qXrE-PGnw130_assertion evidence source_evidence_literature NP764212.RAGxPERbIwyDLzW7x_Naqc6fkBHYpi4_-xv2qXrE-PGnw130_provenance.
- NP764212.RAGxPERbIwyDLzW7x_Naqc6fkBHYpi4_-xv2qXrE-PGnw130_assertion SIO_000772 17668384 NP764212.RAGxPERbIwyDLzW7x_Naqc6fkBHYpi4_-xv2qXrE-PGnw130_provenance.
- NP764212.RAGxPERbIwyDLzW7x_Naqc6fkBHYpi4_-xv2qXrE-PGnw130_assertion wasDerivedFrom befree-20140225 NP764212.RAGxPERbIwyDLzW7x_Naqc6fkBHYpi4_-xv2qXrE-PGnw130_provenance.
- NP764212.RAGxPERbIwyDLzW7x_Naqc6fkBHYpi4_-xv2qXrE-PGnw130_assertion wasGeneratedBy ECO_0000203 NP764212.RAGxPERbIwyDLzW7x_Naqc6fkBHYpi4_-xv2qXrE-PGnw130_provenance.