Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_assertion> ?p ?o ?g. }
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- NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_assertion type Assertion NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_head.
- NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_assertion description "[In this study we screened several cohorts of children for CDKL5 mutations, totaling 316 patients, including individuals with a clinical diagnosis of RTT but who were negative for MECP2 mutations (n=102), males with X-linked mental retardation (n=9), patients with West syndrome (n=52), patients with autism (n=59), patients with epileptic encephalopathy (n=33), patients with Aicardi syndrome (n=7) and other patients with intellectual disability with or without seizures (n=54).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_provenance.
- NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_assertion evidence source_evidence_literature NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_provenance.
- NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_assertion SIO_000772 20397747 NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_provenance.
- NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_assertion wasDerivedFrom befree-20150227 NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_provenance.
- NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_assertion wasGeneratedBy ECO_0000203 NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_provenance.