Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP460600.RAJhUerzmitmRdNJGVFnefalSerSh0l3MbBh-zOiFJi5Y130_assertion> ?p ?o ?g. }
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- NP460600.RAJhUerzmitmRdNJGVFnefalSerSh0l3MbBh-zOiFJi5Y130_assertion type Assertion NP460600.RAJhUerzmitmRdNJGVFnefalSerSh0l3MbBh-zOiFJi5Y130_head.
- NP460600.RAJhUerzmitmRdNJGVFnefalSerSh0l3MbBh-zOiFJi5Y130_assertion description "[Mutations in the human ARX gene show unusually heterogeneous clinical presentations, including syndromic and nonsyndromic mental retardation, myoclonic epilepsy with spasticity, and lissencephaly with abnormal genitalia, that are believed to arise from an impairment of the embryonic mechanisms building the anterior central nervous system structures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP460600.RAJhUerzmitmRdNJGVFnefalSerSh0l3MbBh-zOiFJi5Y130_provenance.
- NP460600.RAJhUerzmitmRdNJGVFnefalSerSh0l3MbBh-zOiFJi5Y130_assertion evidence source_evidence_literature NP460600.RAJhUerzmitmRdNJGVFnefalSerSh0l3MbBh-zOiFJi5Y130_provenance.
- NP460600.RAJhUerzmitmRdNJGVFnefalSerSh0l3MbBh-zOiFJi5Y130_assertion SIO_000772 15376319 NP460600.RAJhUerzmitmRdNJGVFnefalSerSh0l3MbBh-zOiFJi5Y130_provenance.
- NP460600.RAJhUerzmitmRdNJGVFnefalSerSh0l3MbBh-zOiFJi5Y130_assertion wasDerivedFrom befree-2016 NP460600.RAJhUerzmitmRdNJGVFnefalSerSh0l3MbBh-zOiFJi5Y130_provenance.
- NP460600.RAJhUerzmitmRdNJGVFnefalSerSh0l3MbBh-zOiFJi5Y130_assertion wasGeneratedBy ECO_0000203 NP460600.RAJhUerzmitmRdNJGVFnefalSerSh0l3MbBh-zOiFJi5Y130_provenance.