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- source_evidence_literature type ECO_0000212 NP199833.RABplA5_ZxyrkijA0-QKrI6EiFBSWapKw7y_4jO7QKNCg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP199833.RABplA5_ZxyrkijA0-QKrI6EiFBSWapKw7y_4jO7QKNCg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP199833.RABplA5_ZxyrkijA0-QKrI6EiFBSWapKw7y_4jO7QKNCg130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP199833.RABplA5_ZxyrkijA0-QKrI6EiFBSWapKw7y_4jO7QKNCg130_provenance.
- NP199833.RABplA5_ZxyrkijA0-QKrI6EiFBSWapKw7y_4jO7QKNCg130_assertion wasGeneratedBy ECO_0000203 NP199833.RABplA5_ZxyrkijA0-QKrI6EiFBSWapKw7y_4jO7QKNCg130_provenance.
- NP199833.RABplA5_ZxyrkijA0-QKrI6EiFBSWapKw7y_4jO7QKNCg130_assertion wasDerivedFrom lhgdn-20090331 NP199833.RABplA5_ZxyrkijA0-QKrI6EiFBSWapKw7y_4jO7QKNCg130_provenance.
- NP199833.RABplA5_ZxyrkijA0-QKrI6EiFBSWapKw7y_4jO7QKNCg130_assertion SIO_000772 12771268 NP199833.RABplA5_ZxyrkijA0-QKrI6EiFBSWapKw7y_4jO7QKNCg130_provenance.
- NP199833.RABplA5_ZxyrkijA0-QKrI6EiFBSWapKw7y_4jO7QKNCg130_assertion evidence source_evidence_literature NP199833.RABplA5_ZxyrkijA0-QKrI6EiFBSWapKw7y_4jO7QKNCg130_provenance.
- NP199833.RABplA5_ZxyrkijA0-QKrI6EiFBSWapKw7y_4jO7QKNCg130_assertion description "[A novel F318C substitution alters a highly conserved residue in a predicted repeat domain of LGI1 which may participate in the development of the " autosomal dominant partial epilepsy with auditory features " phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP199833.RABplA5_ZxyrkijA0-QKrI6EiFBSWapKw7y_4jO7QKNCg130_provenance.