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- source_evidence_literature type ECO_0000212 NP406834.RA17uu92Na4d95__8LdlSZS_I3l6KeppurmyI703L9ag0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP406834.RA17uu92Na4d95__8LdlSZS_I3l6KeppurmyI703L9ag0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP406834.RA17uu92Na4d95__8LdlSZS_I3l6KeppurmyI703L9ag0130_provenance.
- NP406834.RA17uu92Na4d95__8LdlSZS_I3l6KeppurmyI703L9ag0130_assertion description "[Human Filamin A gene (FLNA) mutations are associated with classical X-linked bilateral periventricular nodular heterotopia (PNH), featuring contiguous heterotopic nodules, mega cisterna magna, cardiovascular malformations and epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP406834.RA17uu92Na4d95__8LdlSZS_I3l6KeppurmyI703L9ag0130_provenance.
- NP406834.RA17uu92Na4d95__8LdlSZS_I3l6KeppurmyI703L9ag0130_assertion evidence source_evidence_literature NP406834.RA17uu92Na4d95__8LdlSZS_I3l6KeppurmyI703L9ag0130_provenance.
- NP406834.RA17uu92Na4d95__8LdlSZS_I3l6KeppurmyI703L9ag0130_assertion SIO_000772 16684786 NP406834.RA17uu92Na4d95__8LdlSZS_I3l6KeppurmyI703L9ag0130_provenance.
- NP406834.RA17uu92Na4d95__8LdlSZS_I3l6KeppurmyI703L9ag0130_assertion wasDerivedFrom befree-20150227 NP406834.RA17uu92Na4d95__8LdlSZS_I3l6KeppurmyI703L9ag0130_provenance.
- NP406834.RA17uu92Na4d95__8LdlSZS_I3l6KeppurmyI703L9ag0130_assertion wasGeneratedBy ECO_0000203 NP406834.RA17uu92Na4d95__8LdlSZS_I3l6KeppurmyI703L9ag0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP406834.RA17uu92Na4d95__8LdlSZS_I3l6KeppurmyI703L9ag0130_provenance.