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- source_evidence_literature type ECO_0000212 NP552964.RAnTbBbEcyHnbyD1X0jxiQUlYOVBRi-a-wFJnTllISPhM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP552964.RAnTbBbEcyHnbyD1X0jxiQUlYOVBRi-a-wFJnTllISPhM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP552964.RAnTbBbEcyHnbyD1X0jxiQUlYOVBRi-a-wFJnTllISPhM130_provenance.
- NP552964.RAnTbBbEcyHnbyD1X0jxiQUlYOVBRi-a-wFJnTllISPhM130_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." NP552964.RAnTbBbEcyHnbyD1X0jxiQUlYOVBRi-a-wFJnTllISPhM130_provenance.
- NP552964.RAnTbBbEcyHnbyD1X0jxiQUlYOVBRi-a-wFJnTllISPhM130_assertion evidence source_evidence_literature NP552964.RAnTbBbEcyHnbyD1X0jxiQUlYOVBRi-a-wFJnTllISPhM130_provenance.
- NP552964.RAnTbBbEcyHnbyD1X0jxiQUlYOVBRi-a-wFJnTllISPhM130_assertion SIO_000772 16302874 NP552964.RAnTbBbEcyHnbyD1X0jxiQUlYOVBRi-a-wFJnTllISPhM130_provenance.
- NP552964.RAnTbBbEcyHnbyD1X0jxiQUlYOVBRi-a-wFJnTllISPhM130_assertion wasDerivedFrom befree-20140225 NP552964.RAnTbBbEcyHnbyD1X0jxiQUlYOVBRi-a-wFJnTllISPhM130_provenance.
- NP552964.RAnTbBbEcyHnbyD1X0jxiQUlYOVBRi-a-wFJnTllISPhM130_assertion wasGeneratedBy ECO_0000203 NP552964.RAnTbBbEcyHnbyD1X0jxiQUlYOVBRi-a-wFJnTllISPhM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP552964.RAnTbBbEcyHnbyD1X0jxiQUlYOVBRi-a-wFJnTllISPhM130_provenance.