Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP523551.RAoU7O1bHkdBbXS9zGcdD1O5Q0uRE7wtJkEp2TxCSRyJY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP523551.RAoU7O1bHkdBbXS9zGcdD1O5Q0uRE7wtJkEp2TxCSRyJY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP523551.RAoU7O1bHkdBbXS9zGcdD1O5Q0uRE7wtJkEp2TxCSRyJY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP523551.RAoU7O1bHkdBbXS9zGcdD1O5Q0uRE7wtJkEp2TxCSRyJY130_provenance.
- NP523551.RAoU7O1bHkdBbXS9zGcdD1O5Q0uRE7wtJkEp2TxCSRyJY130_assertion description "[Mutations in GABRA1, GABRG2, and GABRB3 are associated with absence seizures, while mutations in CLCN2 and myoclonin/EFHC1 substantiate juvenile myoclonic epilepsy as a clinical entity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP523551.RAoU7O1bHkdBbXS9zGcdD1O5Q0uRE7wtJkEp2TxCSRyJY130_provenance.
- NP523551.RAoU7O1bHkdBbXS9zGcdD1O5Q0uRE7wtJkEp2TxCSRyJY130_assertion evidence source_evidence_literature NP523551.RAoU7O1bHkdBbXS9zGcdD1O5Q0uRE7wtJkEp2TxCSRyJY130_provenance.
- NP523551.RAoU7O1bHkdBbXS9zGcdD1O5Q0uRE7wtJkEp2TxCSRyJY130_assertion SIO_000772 16302874 NP523551.RAoU7O1bHkdBbXS9zGcdD1O5Q0uRE7wtJkEp2TxCSRyJY130_provenance.
- NP523551.RAoU7O1bHkdBbXS9zGcdD1O5Q0uRE7wtJkEp2TxCSRyJY130_assertion wasDerivedFrom befree-2016 NP523551.RAoU7O1bHkdBbXS9zGcdD1O5Q0uRE7wtJkEp2TxCSRyJY130_provenance.
- NP523551.RAoU7O1bHkdBbXS9zGcdD1O5Q0uRE7wtJkEp2TxCSRyJY130_assertion wasGeneratedBy ECO_0000203 NP523551.RAoU7O1bHkdBbXS9zGcdD1O5Q0uRE7wtJkEp2TxCSRyJY130_provenance.
- befree-2016 importedOn "2016-02-19" NP523551.RAoU7O1bHkdBbXS9zGcdD1O5Q0uRE7wtJkEp2TxCSRyJY130_provenance.