Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP949042.RAgYnSUPKHekRwBIuVemZETOeRwkCcCE9hLbZP7dwuZW0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP949042.RAgYnSUPKHekRwBIuVemZETOeRwkCcCE9hLbZP7dwuZW0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP949042.RAgYnSUPKHekRwBIuVemZETOeRwkCcCE9hLbZP7dwuZW0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP949042.RAgYnSUPKHekRwBIuVemZETOeRwkCcCE9hLbZP7dwuZW0130_provenance.
- NP949042.RAgYnSUPKHekRwBIuVemZETOeRwkCcCE9hLbZP7dwuZW0130_assertion description "[We summarize recent updates on the genes and related clinical syndromes involved in the pathogenesis of early-onset epileptic encephalopathies: Aristaless-related homeobox (ARX), cyclin-dependent kinase-like 5 (CDKL5), syntaxin-binding protein 1 (STXBP1), solute carrier family 25 member 22 (SLC25A22), nonerythrocytic ?-spectrin-1 (SPTAN1), phospholipase C?1 (PLC?1), membrane-associated guanylate kinase inverted-2 (MAGI2), polynucleotide kinase 3'-phosphatase (PNKP), sodium channel neuronal type 1? subunit (SCN1A), protocadherin 19 (PCDH19), and pyridoxamine 5-prime-phosphate oxidase (PNPO).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP949042.RAgYnSUPKHekRwBIuVemZETOeRwkCcCE9hLbZP7dwuZW0130_provenance.
- NP949042.RAgYnSUPKHekRwBIuVemZETOeRwkCcCE9hLbZP7dwuZW0130_assertion evidence source_evidence_literature NP949042.RAgYnSUPKHekRwBIuVemZETOeRwkCcCE9hLbZP7dwuZW0130_provenance.
- NP949042.RAgYnSUPKHekRwBIuVemZETOeRwkCcCE9hLbZP7dwuZW0130_assertion SIO_000772 22196487 NP949042.RAgYnSUPKHekRwBIuVemZETOeRwkCcCE9hLbZP7dwuZW0130_provenance.
- NP949042.RAgYnSUPKHekRwBIuVemZETOeRwkCcCE9hLbZP7dwuZW0130_assertion wasDerivedFrom befree-2016 NP949042.RAgYnSUPKHekRwBIuVemZETOeRwkCcCE9hLbZP7dwuZW0130_provenance.
- NP949042.RAgYnSUPKHekRwBIuVemZETOeRwkCcCE9hLbZP7dwuZW0130_assertion wasGeneratedBy ECO_0000203 NP949042.RAgYnSUPKHekRwBIuVemZETOeRwkCcCE9hLbZP7dwuZW0130_provenance.
- befree-2016 importedOn "2016-02-19" NP949042.RAgYnSUPKHekRwBIuVemZETOeRwkCcCE9hLbZP7dwuZW0130_provenance.