Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP762644.RAx8L9NuC2HbGwGmJAKgAKjvSWHRtWZRpM7KKBJXZKS0Y130_assertion> ?p ?o ?g. }
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- NP762644.RAx8L9NuC2HbGwGmJAKgAKjvSWHRtWZRpM7KKBJXZKS0Y130_assertion type Assertion NP762644.RAx8L9NuC2HbGwGmJAKgAKjvSWHRtWZRpM7KKBJXZKS0Y130_head.
- NP762644.RAx8L9NuC2HbGwGmJAKgAKjvSWHRtWZRpM7KKBJXZKS0Y130_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." NP762644.RAx8L9NuC2HbGwGmJAKgAKjvSWHRtWZRpM7KKBJXZKS0Y130_provenance.
- NP762644.RAx8L9NuC2HbGwGmJAKgAKjvSWHRtWZRpM7KKBJXZKS0Y130_assertion evidence source_evidence_literature NP762644.RAx8L9NuC2HbGwGmJAKgAKjvSWHRtWZRpM7KKBJXZKS0Y130_provenance.
- NP762644.RAx8L9NuC2HbGwGmJAKgAKjvSWHRtWZRpM7KKBJXZKS0Y130_assertion SIO_000772 19747203 NP762644.RAx8L9NuC2HbGwGmJAKgAKjvSWHRtWZRpM7KKBJXZKS0Y130_provenance.
- NP762644.RAx8L9NuC2HbGwGmJAKgAKjvSWHRtWZRpM7KKBJXZKS0Y130_assertion wasDerivedFrom befree-2016 NP762644.RAx8L9NuC2HbGwGmJAKgAKjvSWHRtWZRpM7KKBJXZKS0Y130_provenance.
- NP762644.RAx8L9NuC2HbGwGmJAKgAKjvSWHRtWZRpM7KKBJXZKS0Y130_assertion wasGeneratedBy ECO_0000203 NP762644.RAx8L9NuC2HbGwGmJAKgAKjvSWHRtWZRpM7KKBJXZKS0Y130_provenance.