Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP503964.RAGJyxZrZBi_C-rtUhe683-AiBcT1nm9CFBTMB2iJ4XWk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP503964.RAGJyxZrZBi_C-rtUhe683-AiBcT1nm9CFBTMB2iJ4XWk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP503964.RAGJyxZrZBi_C-rtUhe683-AiBcT1nm9CFBTMB2iJ4XWk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP503964.RAGJyxZrZBi_C-rtUhe683-AiBcT1nm9CFBTMB2iJ4XWk130_provenance.
- NP503964.RAGJyxZrZBi_C-rtUhe683-AiBcT1nm9CFBTMB2iJ4XWk130_assertion description "[Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP503964.RAGJyxZrZBi_C-rtUhe683-AiBcT1nm9CFBTMB2iJ4XWk130_provenance.
- NP503964.RAGJyxZrZBi_C-rtUhe683-AiBcT1nm9CFBTMB2iJ4XWk130_assertion evidence source_evidence_literature NP503964.RAGJyxZrZBi_C-rtUhe683-AiBcT1nm9CFBTMB2iJ4XWk130_provenance.
- NP503964.RAGJyxZrZBi_C-rtUhe683-AiBcT1nm9CFBTMB2iJ4XWk130_assertion SIO_000772 16015284 NP503964.RAGJyxZrZBi_C-rtUhe683-AiBcT1nm9CFBTMB2iJ4XWk130_provenance.
- NP503964.RAGJyxZrZBi_C-rtUhe683-AiBcT1nm9CFBTMB2iJ4XWk130_assertion wasDerivedFrom befree-2016 NP503964.RAGJyxZrZBi_C-rtUhe683-AiBcT1nm9CFBTMB2iJ4XWk130_provenance.
- NP503964.RAGJyxZrZBi_C-rtUhe683-AiBcT1nm9CFBTMB2iJ4XWk130_assertion wasGeneratedBy ECO_0000203 NP503964.RAGJyxZrZBi_C-rtUhe683-AiBcT1nm9CFBTMB2iJ4XWk130_provenance.
- befree-2016 importedOn "2016-02-19" NP503964.RAGJyxZrZBi_C-rtUhe683-AiBcT1nm9CFBTMB2iJ4XWk130_provenance.