Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_provenance.
- befree-2016 importedOn "2016-02-19" NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_provenance.
- NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_assertion wasGeneratedBy ECO_0000203 NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_provenance.
- NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_assertion wasDerivedFrom befree-2016 NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_provenance.
- NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_assertion SIO_000772 15389977 NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_provenance.
- NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_assertion evidence source_evidence_literature NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_provenance.
- NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_assertion description "[We report on the second M-D family in which several clinically affected epsilon-sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may form part of the phenotypic spectrum of the condition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP461721.RA-2-snhl6Uryqg-YKQ9GDJtUP7MbSc5hplpYZBGsrA0w130_provenance.