Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_provenance.
- 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.
- befree-20150227 importedOn "2015-02-27" NP719269.RAbdzE9iIxmwL-HTP__PcJrL9owN6VWuS1f7xmcoadjMA130_provenance.