Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP406834.RA17uu92Na4d95__8LdlSZS_I3l6KeppurmyI703L9ag0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP406834.RA17uu92Na4d95__8LdlSZS_I3l6KeppurmyI703L9ag0130_assertion type Assertion NP406834.RA17uu92Na4d95__8LdlSZS_I3l6KeppurmyI703L9ag0130_head.
- 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.