Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP406863.RAeXPu2M7vsbI69AqJ86w-l3NZrPX-5bShnvixDixmXIk130_assertion> ?p ?o ?g. }
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- NP406863.RAeXPu2M7vsbI69AqJ86w-l3NZrPX-5bShnvixDixmXIk130_assertion type Assertion NP406863.RAeXPu2M7vsbI69AqJ86w-l3NZrPX-5bShnvixDixmXIk130_head.
- NP406863.RAeXPu2M7vsbI69AqJ86w-l3NZrPX-5bShnvixDixmXIk130_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." NP406863.RAeXPu2M7vsbI69AqJ86w-l3NZrPX-5bShnvixDixmXIk130_provenance.
- NP406863.RAeXPu2M7vsbI69AqJ86w-l3NZrPX-5bShnvixDixmXIk130_assertion evidence source_evidence_literature NP406863.RAeXPu2M7vsbI69AqJ86w-l3NZrPX-5bShnvixDixmXIk130_provenance.
- NP406863.RAeXPu2M7vsbI69AqJ86w-l3NZrPX-5bShnvixDixmXIk130_assertion SIO_000772 16684786 NP406863.RAeXPu2M7vsbI69AqJ86w-l3NZrPX-5bShnvixDixmXIk130_provenance.
- NP406863.RAeXPu2M7vsbI69AqJ86w-l3NZrPX-5bShnvixDixmXIk130_assertion wasDerivedFrom befree-20150227 NP406863.RAeXPu2M7vsbI69AqJ86w-l3NZrPX-5bShnvixDixmXIk130_provenance.
- NP406863.RAeXPu2M7vsbI69AqJ86w-l3NZrPX-5bShnvixDixmXIk130_assertion wasGeneratedBy ECO_0000203 NP406863.RAeXPu2M7vsbI69AqJ86w-l3NZrPX-5bShnvixDixmXIk130_provenance.