Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP835566.RAuELNwimiNwM7A8O19NtYbNNx4FrzNYMEb6kKgB8l7XA130_assertion> ?p ?o ?g. }
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- NP835566.RAuELNwimiNwM7A8O19NtYbNNx4FrzNYMEb6kKgB8l7XA130_assertion type Assertion NP835566.RAuELNwimiNwM7A8O19NtYbNNx4FrzNYMEb6kKgB8l7XA130_head.
- NP835566.RAuELNwimiNwM7A8O19NtYbNNx4FrzNYMEb6kKgB8l7XA130_assertion description "[We report a new neurodegenerative phenotype associated with a known ARX mutation and causing early abnormal neurodevelopment, a complex movement disorder, and early infantile epileptic encephalopathy with a suppression-burst pattern (Ohtahara syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP835566.RAuELNwimiNwM7A8O19NtYbNNx4FrzNYMEb6kKgB8l7XA130_provenance.
- NP835566.RAuELNwimiNwM7A8O19NtYbNNx4FrzNYMEb6kKgB8l7XA130_assertion evidence source_evidence_literature NP835566.RAuELNwimiNwM7A8O19NtYbNNx4FrzNYMEb6kKgB8l7XA130_provenance.
- NP835566.RAuELNwimiNwM7A8O19NtYbNNx4FrzNYMEb6kKgB8l7XA130_assertion SIO_000772 19747203 NP835566.RAuELNwimiNwM7A8O19NtYbNNx4FrzNYMEb6kKgB8l7XA130_provenance.
- NP835566.RAuELNwimiNwM7A8O19NtYbNNx4FrzNYMEb6kKgB8l7XA130_assertion wasDerivedFrom befree-20150227 NP835566.RAuELNwimiNwM7A8O19NtYbNNx4FrzNYMEb6kKgB8l7XA130_provenance.
- NP835566.RAuELNwimiNwM7A8O19NtYbNNx4FrzNYMEb6kKgB8l7XA130_assertion wasGeneratedBy ECO_0000203 NP835566.RAuELNwimiNwM7A8O19NtYbNNx4FrzNYMEb6kKgB8l7XA130_provenance.