Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP615267.RA8o8AkpEvaHzVvmYk_h7tWP_6Jv1WHG9auzX8HRzHe9c130_assertion> ?p ?o ?g. }
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- NP615267.RA8o8AkpEvaHzVvmYk_h7tWP_6Jv1WHG9auzX8HRzHe9c130_assertion type Assertion NP615267.RA8o8AkpEvaHzVvmYk_h7tWP_6Jv1WHG9auzX8HRzHe9c130_head.
- NP615267.RA8o8AkpEvaHzVvmYk_h7tWP_6Jv1WHG9auzX8HRzHe9c130_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." NP615267.RA8o8AkpEvaHzVvmYk_h7tWP_6Jv1WHG9auzX8HRzHe9c130_provenance.
- NP615267.RA8o8AkpEvaHzVvmYk_h7tWP_6Jv1WHG9auzX8HRzHe9c130_assertion evidence source_evidence_literature NP615267.RA8o8AkpEvaHzVvmYk_h7tWP_6Jv1WHG9auzX8HRzHe9c130_provenance.
- NP615267.RA8o8AkpEvaHzVvmYk_h7tWP_6Jv1WHG9auzX8HRzHe9c130_assertion SIO_000772 16684786 NP615267.RA8o8AkpEvaHzVvmYk_h7tWP_6Jv1WHG9auzX8HRzHe9c130_provenance.
- NP615267.RA8o8AkpEvaHzVvmYk_h7tWP_6Jv1WHG9auzX8HRzHe9c130_assertion wasDerivedFrom befree-20140225 NP615267.RA8o8AkpEvaHzVvmYk_h7tWP_6Jv1WHG9auzX8HRzHe9c130_provenance.
- NP615267.RA8o8AkpEvaHzVvmYk_h7tWP_6Jv1WHG9auzX8HRzHe9c130_assertion wasGeneratedBy ECO_0000203 NP615267.RA8o8AkpEvaHzVvmYk_h7tWP_6Jv1WHG9auzX8HRzHe9c130_provenance.