Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP548839.RAuEUXeuJL4IQkPfkF0VRCfbLQcz4YE92DDnQFOC2OPG0130_assertion> ?p ?o ?g. }
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- NP548839.RAuEUXeuJL4IQkPfkF0VRCfbLQcz4YE92DDnQFOC2OPG0130_assertion type Assertion NP548839.RAuEUXeuJL4IQkPfkF0VRCfbLQcz4YE92DDnQFOC2OPG0130_head.
- NP548839.RAuEUXeuJL4IQkPfkF0VRCfbLQcz4YE92DDnQFOC2OPG0130_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." NP548839.RAuEUXeuJL4IQkPfkF0VRCfbLQcz4YE92DDnQFOC2OPG0130_provenance.
- NP548839.RAuEUXeuJL4IQkPfkF0VRCfbLQcz4YE92DDnQFOC2OPG0130_assertion evidence source_evidence_literature NP548839.RAuEUXeuJL4IQkPfkF0VRCfbLQcz4YE92DDnQFOC2OPG0130_provenance.
- NP548839.RAuEUXeuJL4IQkPfkF0VRCfbLQcz4YE92DDnQFOC2OPG0130_assertion SIO_000772 16684786 NP548839.RAuEUXeuJL4IQkPfkF0VRCfbLQcz4YE92DDnQFOC2OPG0130_provenance.
- NP548839.RAuEUXeuJL4IQkPfkF0VRCfbLQcz4YE92DDnQFOC2OPG0130_assertion wasDerivedFrom befree-2016 NP548839.RAuEUXeuJL4IQkPfkF0VRCfbLQcz4YE92DDnQFOC2OPG0130_provenance.
- NP548839.RAuEUXeuJL4IQkPfkF0VRCfbLQcz4YE92DDnQFOC2OPG0130_assertion wasGeneratedBy ECO_0000203 NP548839.RAuEUXeuJL4IQkPfkF0VRCfbLQcz4YE92DDnQFOC2OPG0130_provenance.